ID   NPC1-2-Corr#32
AC   CVCL_RM44
SY   WIBR-IPS-NPC1P237S/I1062T-Corr #32
DR   SKIP; SKIP000982
DR   Wikidata; Q54930987
RX   PubMed=24936472;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (PubMed=24936472).
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple_corrected; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous; Note=By TALEN (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_7374 ! GM03123
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
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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).
//