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

Li, R; Pradhan, M; Xu, M; Roeder, A; Beers, J; Zou, JZ; Liu, CY; Porter, FD; Zhen, W

Li, R; Zhen, W (corresponding author), NIH, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA.

STEM CELL RESEARCH, 2020; 44 ():

Abstract

Niemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracel......

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