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Cellosaurus GM00110 (CVCL_W054)

[Text version]
Cell line name GM00110
Synonyms GM-110; GM00110A
Accession CVCL_W054
Resource Identification Initiative To cite this cell line use: GM00110 (RRID:CVCL_W054)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (Coriell=GM00110).
  • Mutation; HGNC; 7897; NPC1; Simple; p.Phe740_Ser741del (c.2217_2222delCTTTTC); Zygosity=Heterozygous (Coriell=GM00110).
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)
Sex of cell Male
Age at sampling 9Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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; GM00110
Cell line databases/resources CLO; CLO_0025824
Encyclopedic resources Wikidata; Q54836043
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number16