An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene

Niemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracellular cholesterol-binding protein in lysosome. Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficki...

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Autores principales: Li, Rong, Pradhan, Manisha, Xu, Miao, Roeder, Amanda, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Porter, Forbes D., Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218921/
https://www.ncbi.nlm.nih.gov/pubmed/32114296
http://dx.doi.org/10.1016/j.scr.2020.101737
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author Li, Rong
Pradhan, Manisha
Xu, Miao
Roeder, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Porter, Forbes D.
Zheng, Wei
author_facet Li, Rong
Pradhan, Manisha
Xu, Miao
Roeder, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Porter, Forbes D.
Zheng, Wei
author_sort Li, Rong
collection PubMed
description Niemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracellular cholesterol-binding protein in lysosome. Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a male patient that has a homozygous p.I1061T missense mutation in NPC1 using a non-integrating Sendai virus technique. This NPC1 iPSC line offers a useful resource for disease modeling and drug development.
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spelling pubmed-72189212020-05-13 An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene Li, Rong Pradhan, Manisha Xu, Miao Roeder, Amanda Beers, Jeanette Zou, Jizhong Liu, Chengyu Porter, Forbes D. Zheng, Wei Stem Cell Res Article Niemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracellular cholesterol-binding protein in lysosome. Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a male patient that has a homozygous p.I1061T missense mutation in NPC1 using a non-integrating Sendai virus technique. This NPC1 iPSC line offers a useful resource for disease modeling and drug development. 2020-02-19 2020-04 /pmc/articles/PMC7218921/ /pubmed/32114296 http://dx.doi.org/10.1016/j.scr.2020.101737 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Li, Rong
Pradhan, Manisha
Xu, Miao
Roeder, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Porter, Forbes D.
Zheng, Wei
An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene
title An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene
title_full An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene
title_fullStr An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene
title_full_unstemmed An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene
title_short An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene
title_sort induced pluripotent stem cell line (trndi001-d) from a niemann-pick disease type c1 (npc1) patient carrying a homozygous p. i1061t (c. 3182t>c) mutation in the npc1 gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218921/
https://www.ncbi.nlm.nih.gov/pubmed/32114296
http://dx.doi.org/10.1016/j.scr.2020.101737
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