Format

Send to

Choose Destination
Stem Cell Res. 2019 May 15;38:101461. doi: 10.1016/j.scr.2019.101461. [Epub ahead of print]

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.

Author information

1
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
2
iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
3
Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
4
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: Wei.Zheng@nih.gov.

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.

PMID:
31132580
DOI:
10.1016/j.scr.2019.101461
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center