An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene

An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene

Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder caused by mutations in the nebulin (NEB) gene. We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line SDQLCHi017-A, derived from a 1-month-old patient with NEM2 carrying compound...

Full description

Bibliographic Details
Main Authors:	Yanyan Ma, Haiyan Zhang, Xiaomei Li, Xiaomeng Yang, Yue Li, Jingyun Guan, Yuqiang Lv, Zhongtao Gai, Yi Liu
Format:	Article
Language:	English
Published:	Elsevier 2020-03-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506120300337

Similar Items

An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene
by: Haiyan Zhang, et al.
Published: (2019-12-01)

An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene
by: Haiyan Zhang, et al.
Published: (2020-05-01)

An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease- 28 carrying compound heterozygote mutations in IL10RA gene
by: Yanyan Ma, et al.
Published: (2019-12-01)

Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene
by: Yanyan Ma, et al.
Published: (2019-10-01)

neb: a zebrafish model of nemaline myopathy due to nebulin mutation
by: William R. Telfer, et al.
Published: (2012-05-01)

Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene
by: Haiyan Zhang, et al.
Published: (2019-12-01)

Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene
by: Jingyun Guan, et al.
Published: (2020-03-01)

Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation
by: Yue Li, et al.
Published: (2021-04-01)

Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene
by: Xiaomeng Yang, et al.
Published: (2021-03-01)

Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD gene
by: Jingyun Guan, et al.
Published: (2020-01-01)

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant
by: Masahiro Ohara, et al.
Published: (2020-12-01)

Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene
by: Haiyan Zhang, et al.
Published: (2021-03-01)

A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene
by: Zilong Li, et al.
Published: (2021-05-01)

Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene
by: Haiyan Zhang, et al.
Published: (2021-05-01)

Nemaline Myopathy
by: J Gordon Millichap
Published: (1988-11-01)

Novel mutations in <it>NEB </it>cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
by: Lawlor Michael W, et al.
Published: (2011-06-01)

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
by: Lawlor, Michael, et al.
Published: (2011)

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
by: Jenni M. Laitila, et al.
Published: (2020-02-01)

Congenital Nemaline Myopathy
by: J Gordon Millichap
Published: (1994-02-01)

Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient
by: Peter J. Houweling, et al.
Published: (2021-07-01)

Nemaline Myopathy: Respiratory Failure
by: J Gordon Millichap
Published: (1991-03-01)

Dominantly Inherited Nemaline Myopathy
by: J Gordon Millichap
Published: (2003-08-01)

Nemaline Myopathy: Clinical Study
by: J Gordon Millichap
Published: (2001-10-01)

Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene
by: Jingyun Guan, et al.
Published: (2019-12-01)

Nemaline Myopathy: A Case Report
by: Adnan A. Mubaraki
Published: (2021-07-01)

Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB
by: Jingyun Guan, et al.
Published: (2021-04-01)

PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene
by: Ning Liu, et al.
Published: (2021-03-01)

Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene
by: Haiyan Zhang, et al.
Published: (2019-10-01)

Nemaline myopathy: A report of four cases
by: Deepti A, et al.
Published: (2007-01-01)

Study of actin mutations observed in nemaline myopathy
by: Costa, CeÌline Fleur
Published: (2003)

Respiratory treatment in a patient with nemaline myopathy
by: Massimiliano Polastri, et al.
Published: (2019-12-01)

Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1
by: Haiyan Zhang, et al.
Published: (2019-08-01)

Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25
by: Xiaomeng Yang, et al.
Published: (2021-03-01)

Understanding the role of KLHL41 interactors in nemaline myopathy
by: Jirka, Caroline
Published: (2016)

Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC
by: Xiaomeng Yang, et al.
Published: (2020-03-01)

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene
by: Yue Li, et al.
Published: (2019-10-01)

Evaluating proteasome modulation as a therapeutic strategy in nemaline myopathy
by: Wang, Jeffrey C.
Published: (2018)

Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene
by: Bin Wang, et al.
Published: (2021-03-01)

Generation of a human induced pluripotent stem cell line (SDQLCHi036-A) from a patient with ornithine transcarbamylase deficiency carrying a deletion involving 3–9 exons of OTC gene
by: Jingyun Guan, et al.
Published: (2021-04-01)

α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
by: Sulaiman Almobarak, et al.
Published: (2021-03-01)

Cannot write session to /tmp/vufind_sessions/sess_ik7o2i8stotph0dcsse7g5ed22