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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.

08:00 EDT 12th April 2019 | BioPortfolio

Summary of "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 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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This article was published in the following journal.

Name: Stem cell research
ISSN: 1876-7753
Pages: 101436

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Medical and Biotech [MESH] Definitions

Procedures used for the induction of CELLULAR REPROGRAMMING to change the terminal phenotype of a cell, such as the generation of INDUCED PLURIPOTENT STEM CELLS from differentiated adult cells by the forced expression of specific genes.

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Cells from adult organisms that have been reprogrammed into a pluripotential state similar to that of EMBRYONIC STEM CELLS.

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