Cellosaurus cell line GM01675 (CVCL

Cellosaurus GM01675 (CVCL_U387)

Cross-references
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; 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)
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 creation	03-Feb-2014
Last entry update	19-Dec-2024
Version number	17