Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation
Human-induced pluripotent stem cell lines (hiPSCs) derived from the peripheral blood mononuclear cells (PBMCs) of a woman (CMCi007-A) and her son (CMCi006-A) diagnosed with Fabry disease (FD) caused by the frameshift deletion mutation c.969delC in the alpha-galactosidase A (GLA) gene were generated....
Main Authors: | Sheng Cui, Yoo Jin Shin, Eun Jeong Ko, Sun Woo Lim, Ji Hyeon Ju, Kang In Lee, Jae Young Lee, Chul Woo Yang, Byung Ha Chung |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2021-03-01
|
Series: | Stem Cell Research |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S187350612100060X |
Similar Items
-
Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene
by: Eun Jeong Ko, et al.
Published: (2021-03-01) -
Generation of a human induced pluripotent stem cell line (CMCi002-A) from a patient with Gitelman’s syndrome
by: Sun Woo Lim, et al.
Published: (2020-12-01) -
Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene
by: Do Hyun Na, et al.
Published: (2020-07-01) -
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
by: Giovanni Duro, et al.
Published: (2018-11-01) -
La malattia di Anderson-Fabry. Introduzione
by: Giovanni Duro, et al.
Published: (2017-07-01)