ID   NPC1-4#17
AC   CVCL_RM48
SY   WIBR-IPS-NPC11920delG/1009G>A #17
DR   SKIP; SKIP000699
DR   Wikidata; Q54930991
RX   PubMed=24936472;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; c.1554-1009G>A (IVS9-1009G>A); ClinVar=VCV000553804; Zygosity=Heterozygous (PubMed=24936472).
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.His641Thrfs*2 (c.1920delG); ClinVar=VCV000281941; Zygosity=Heterozygous (PubMed=24936472).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126864; Niemann-Pick disease, type C1
DI   ORDO; Orphanet_646; Niemann-Pick disease type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_DB18 ! GM22871
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
RX   PubMed=24936472; DOI=10.1016/j.stemcr.2014.03.014; PMCID=PMC4050353;
RA   Maetzel D., Sarkar S., Wang H., Abi-Mosleh L., Xu P., Cheng A.W.,
RA   Gao Q., Mitalipova M., Jaenisch R.;
RT   "Genetic and chemical correction of cholesterol accumulation and
RT   impaired autophagy in hepatic and neural cells derived from
RT   Niemann-Pick type C patient-specific iPS cells.";
RL   Stem Cell Reports 2:866-880(2014).
//