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Cellosaurus NPC1-4#20 (CVCL_RM49)

[Text version]
Cell line name NPC1-4#20
Synonyms WIBR-IPS-NPC11920delG/1009G>A #20
Accession CVCL_RM49
Resource Identification Initiative To cite this cell line use: NPC1-4#20 (RRID:CVCL_RM49)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7897; NPC1; Simple; c.1554-1009G>A (IVS9-1009G>A); ClinVar=VCV000553804; Zygosity=Heterozygous (PubMed=24936472).
  • Mutation; 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_DB18 (GM22871)
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=24936472; DOI=10.1016/j.stemcr.2014.03.014
Maetzel D., Sarkar S., Wang H., Abi-Mosleh L., Xu P., Cheng A.W., Gao Q., Mitalipova M., Jaenisch R.
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)

Cross-references
Cell line databases/resources SKIP; SKIP000700
Encyclopedic resources Wikidata; Q54930994
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number10