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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.

Stem cell research - 1 Mar 2021

Cui Sheng, Shin Yoo Jin, Ko Eun Jeong, Lim Sun Woo, Ju Ji Hyeon, Lee Kang In, Lee Jae Young, Yang Chul Woo, Chung Byung Ha

Abstract excerpt

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. These hiPSCs showed typical human embryonic stem cell-like morphology and expressed pluripotency-associated...

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alpha-Galactosidase
Fabry Disease
Induced Pluripotent Stem Cells
Leukocytes, Mononuclear
Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neurogenetic and Muscular Disorders Research

Sequence Deletion

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PMID: 33545641
DOI: 10.1016/j.scr.2021.102214

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