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

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...

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Autores principales: Baskfield, Amanda, Li, Rong, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6686851/
https://www.ncbi.nlm.nih.gov/pubmed/31132580
http://dx.doi.org/10.1016/j.scr.2019.101461
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author Baskfield, Amanda
Li, Rong
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Zheng, Wei
author_facet Baskfield, Amanda
Li, Rong
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Zheng, Wei
author_sort Baskfield, Amanda
collection PubMed
description 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.
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spelling pubmed-66868512019-08-08 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 Baskfield, Amanda Li, Rong Beers, Jeanette Zou, Jizhong Liu, Chengyu Zheng, Wei Stem Cell Res Article 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. 2019-05-15 2019-07 /pmc/articles/PMC6686851/ /pubmed/31132580 http://dx.doi.org/10.1016/j.scr.2019.101461 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/BY/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
Baskfield, Amanda
Li, Rong
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Zheng, Wei
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6686851/
https://www.ncbi.nlm.nih.gov/pubmed/31132580
http://dx.doi.org/10.1016/j.scr.2019.101461
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