Cellosaurus cell line NPC1-3#47 (CVCL

Cross-references
Cell line name	NPC1-3#47
Synonyms	WIBR-IPS-NPC11920delG/1009G>A #47
Accession	CVCL_RM47
Resource Identification Initiative	To cite this cell line use: NPC1-3#47 (RRID:CVCL_RM47)
Comments	Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7897; NPC1; Simple; c.1554-1009G>A (IVS9-1009G>A); ClinVar=VCV000553804; Zygosity=Heterozygous (PubMed=24936472). Mutation; HGNC; HGNC:7897; NPC1; Simple; p.His641Thrfs*2 (c.1920delG); ClinVar=VCV000281941; Zygosity=Heterozygous (PubMed=24936472).
Disease	Niemann-Pick disease, type C1 (NCIt: C126864) Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_DB17 (GM22870)
Sex of cell	Female
Age at sampling	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=24936472; DOI=10.1016/j.stemcr.2014.03.014; PMCID=PMC4050353 Dorothea Maetzel, Sovan Sarkar, Hao-Yi Wang, Lina Abi-Mosleh, Ping Xu, Albert Wu Cheng, Qing Gao, Maya Mitalipova, Rudolf Jaenisch; Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick type C patient-specific iPS cells. Stem Cell Reports 2:866-880(2014)
Encyclopedic resources	Wikidata; Q54930990
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11