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Cellosaurus NPC1-2-Corr#31 (CVCL_RM43)

[Text version]
Cell line name NPC1-2-Corr#31
Synonyms WIBR-IPS-NPC1P237S/I1062T-Corr #31
Accession CVCL_RM43
Resource Identification Initiative To cite this cell line use: NPC1-2-Corr#31 (RRID:CVCL_RM43)
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; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (PubMed=24936472).
  • Mutation; HGNC; 7897; NPC1; Simple_corrected; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous; Note=By TALEN (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_7374 (GM03123)
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=24936472; DOI=10.1016/j.stemcr.2014.03.014; PMCID=PMC4050353
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; SKIP000981
Encyclopedic resources Wikidata; Q54930986
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number9