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Cellosaurus GM00077 (CVCL_U380)

[Text version]
Cell line name GM00077
Synonyms GM0077; GM-77; GM77
Accession CVCL_U380
Resource Identification Initiative To cite this cell line use: GM00077 (RRID:CVCL_U380)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4878; HEXA; Simple; p.Val146Phefs*53 (c.436delG); ClinVar=VCV000371314; Zygosity=Homozygous (Coriell=GM00077).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C8NZ (ESH5)
Sex of cell Male
Age at sampling 1Y
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM00077
Cell line databases/resources CLO; CLO_0025167
Encyclopedic resources Wikidata; Q54836019
Entry history
Entry creation03-Feb-2014
Last entry update30-Jan-2024
Version number17