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An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene.

Abstract：

:Niemann-Pick disease type A (NPA) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for the protein acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 21-fetal-week-old female patient with NPA that has a heterozygous mutation of a p.L302P variant (c.905 T > C) using non-integrating Sendai virus technique. This iPSC line offers a useful resource to study the disease pathophysiology and as a cell-based model for drug development to treat NPA.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Baskfield A,Li R,Beers J,Zou J,Liu C,Zheng W

doi

10.1016/j.scr.2019.101461

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

101461

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(19)30091-1

journal_volume

38

pub_type

杂志文章

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