Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene

Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene

Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for the epsilon subunit of the acetylcholine rec...

Full description

Bibliographic Details
Main Authors: Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdee T. Ryalat, Abdalla Awidi
Format: Article
Language:English
Published: Elsevier 2020-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120302075
id doaj-65cf534afd20402686b783e4b25e483a
record_format Article
spelling doaj-65cf534afd20402686b783e4b25e483a2020-11-25T03:56:24ZengElsevierStem Cell Research1873-50612020-08-0147101906Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE geneNidaa A. Ababneh0Ban Al-Kurdi1Dema Ali2Duaa Abuarqoub3Raghda Barham4Abdee T. Ryalat5Abdalla Awidi6Cell Therapy Center, The University of Jordan, Amman, Jordan; Corresponding author.Cell Therapy Center, The University of Jordan, Amman, JordanCell Therapy Center, The University of Jordan, Amman, JordanDepartment of Pharmacology and Biomedical Sciences, Faculty of Pharmacy and Medical Sciences, University of Petra, Amman, JordanCell Therapy Center, The University of Jordan, Amman, JordanKing Hussein Cancer Center, Amman, JordanCell Therapy Center, The University of Jordan, Amman, Jordan; Hemostasis and Thrombosis Laboratory, School of Medicine, the University of Jordan, Amman, Jordan; Department of Hematology and Oncology, Jordan University Hospital, Amman, JordanInduced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). The generated iPSCs shared similar karyotype with the parental dermal fibroblast cells, expressed pluripotency stem cell markers, and demonstrated differentiation potential into the three germ layers. This cell line can be used as an ideal model to facilitate the understanding of the pathogenic disease mechanisms underlying the congenital myasthenic syndrome and for developing novel therapeutic strategies.http://www.sciencedirect.com/science/article/pii/S1873506120302075
collection DOAJ
language English
format Article
sources DOAJ
author Nidaa A. Ababneh
Ban Al-Kurdi
Dema Ali
Duaa Abuarqoub
Raghda Barham
Abdee T. Ryalat
Abdalla Awidi
spellingShingle Nidaa A. Ababneh
Ban Al-Kurdi
Dema Ali
Duaa Abuarqoub
Raghda Barham
Abdee T. Ryalat
Abdalla Awidi
Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene
Stem Cell Research
author_facet Nidaa A. Ababneh
Ban Al-Kurdi
Dema Ali
Duaa Abuarqoub
Raghda Barham
Abdee T. Ryalat
Abdalla Awidi
author_sort Nidaa A. Ababneh
title Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene
title_short Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene
title_full Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene
title_fullStr Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene
title_full_unstemmed Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene
title_sort establishment of (juctci007-a) ipsc line from a patient with congenital myasthenic syndrome (cms) carrying a homozygous mutation p.arg331trp (c.991c > t) in the chrne gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-08-01
description Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). The generated iPSCs shared similar karyotype with the parental dermal fibroblast cells, expressed pluripotency stem cell markers, and demonstrated differentiation potential into the three germ layers. This cell line can be used as an ideal model to facilitate the understanding of the pathogenic disease mechanisms underlying the congenital myasthenic syndrome and for developing novel therapeutic strategies.
url http://www.sciencedirect.com/science/article/pii/S1873506120302075
work_keys_str_mv AT nidaaaababneh establishmentofjuctci007aipsclinefromapatientwithcongenitalmyasthenicsyndromecmscarryingahomozygousmutationparg331trpc991ctinthechrnegene
AT banalkurdi establishmentofjuctci007aipsclinefromapatientwithcongenitalmyasthenicsyndromecmscarryingahomozygousmutationparg331trpc991ctinthechrnegene
AT demaali establishmentofjuctci007aipsclinefromapatientwithcongenitalmyasthenicsyndromecmscarryingahomozygousmutationparg331trpc991ctinthechrnegene
AT duaaabuarqoub establishmentofjuctci007aipsclinefromapatientwithcongenitalmyasthenicsyndromecmscarryingahomozygousmutationparg331trpc991ctinthechrnegene
AT raghdabarham establishmentofjuctci007aipsclinefromapatientwithcongenitalmyasthenicsyndromecmscarryingahomozygousmutationparg331trpc991ctinthechrnegene
AT abdeetryalat establishmentofjuctci007aipsclinefromapatientwithcongenitalmyasthenicsyndromecmscarryingahomozygousmutationparg331trpc991ctinthechrnegene
AT abdallaawidi establishmentofjuctci007aipsclinefromapatientwithcongenitalmyasthenicsyndromecmscarryingahomozygousmutationparg331trpc991ctinthechrnegene
_version_ 1724465193376808960

Similar Items