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Cellosaurus GM03124 (CVCL_7375)

[Text version]
Cell line name GM03124
Accession CVCL_7375
Resource Identification Initiative To cite this cell line use: GM03124 (RRID:CVCL_7375)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (Coriell=GM03124).
  • Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous (Coriell=GM03124).
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)
Originate from same individual CVCL_7374 ! GM03123
Sex of cell Female
Age at sampling 9Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM03124
Cell line databases/resources CLO; CLO_0013587
Biological sample resources BioSample; SAMN00808258
Encyclopedic resources Wikidata; Q54837886
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number19