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Cellosaurus GM01675 (CVCL_U387)

[Text version]
Cell line name GM01675
Synonyms GM-1675; GM 01675; GM1675
Accession CVCL_U387
Resource Identification Initiative To cite this cell line use: GM01675 (RRID:CVCL_U387)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4367; GM2A; Simple; p.Cys138Arg (c.412T>C); ClinVar=VCV000000390; Zygosity=Homozygous (PubMed=1570834).
Disease GM2-gangliosidosis, AB variant (NCIt: C133084)
GM2 gangliosidosis, AB variant (ORDO: Orphanet_309246)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
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)

PubMed=1570834; PMCID=PMC1682593
Xie B., Wang W., Mahuran D.J.
A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.
Am. J. Hum. Genet. 50:1046-1052(1992)

Cross-references
Cell line collections (Providers) Coriell; GM01675
Cell line databases/resources CLO; CLO_0030949
Biological sample resources BioSample; SAMN00807063
Encyclopedic resources Wikidata; Q54837008
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number16