Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene

Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 1-year old male patient with NPB that...

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Detalles Bibliográficos
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/PMC6643268/
https://www.ncbi.nlm.nih.gov/pubmed/31009819
http://dx.doi.org/10.1016/j.scr.2019.101436
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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 B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 1-year old male patient with NPB that has a heterozygous mutation of a p.L43_A44delLA of SMPD1 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 NPB.
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spelling pubmed-66432682019-07-22 Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene Baskfield, Amanda Li, Rong Beers, Jeanette Zou, Jizhong Liu, Chengyu Zheng, Wei Stem Cell Res Article Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 1-year old male patient with NPB that has a heterozygous mutation of a p.L43_A44delLA of SMPD1 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 NPB. 2019-04-12 2019-05 /pmc/articles/PMC6643268/ /pubmed/31009819 http://dx.doi.org/10.1016/j.scr.2019.101436 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article under the CCBY 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
Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene
title Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene
title_full Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene
title_fullStr Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene
title_short Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene
title_sort generation of an induced pluripotent stem cell line (trndi004-i) from a niemann-pick disease type b patient carrying a heterozygous mutation of p.l43_a44della in the smpd1 gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6643268/
https://www.ncbi.nlm.nih.gov/pubmed/31009819
http://dx.doi.org/10.1016/j.scr.2019.101436
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