ID   AKOSi001-A
AC   CVCL_UL88
SY   iPS GM18455-1; GM18455-1 (NPC2); NPC2 (p.E20X;C47F); NPC2 (c.58G>C;c.140G>T)
DR   hPSCreg; AKOSi001-A
DR   Wikidata; Q93324065
RX   PubMed=31669975;
CC   From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
CC   Sequence variation: Mutation; HGNC; 14537; NPC2; Simple; p.Glu20Ter (c.58G>T); ClinVar=VCV000008477; Zygosity=Heterozygous (PubMed=31669975).
CC   Sequence variation: Mutation; HGNC; 14537; NPC2; Simple; p.Cys47Phe (c.140G>T); ClinVar=VCV000549984; Zygosity=Heterozygous (PubMed=31669975).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C126865; Niemann-Pick disease, type C2
DI   ORDO; Orphanet_646; Niemann-Pick disease type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_DA79 ! GM18455
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 10
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RX   PubMed=31669975; DOI=10.1016/j.scr.2019.101606;
RA   Volkner C., Peter F., Liedtke M., Krohn S., Lindner I.,
RA   Murua Escobar H., Cimmaruta C., Lukas J., Hermann A., Frech M.J.;
RT   "Generation of the Niemann-Pick type C2 patient-derived iPSC line
RT   AKOSi001-A.";
RL   Stem Cell Res. 41:101606-101606(2019).
//