Cellosaurus cell line GM02558 (CVCL

Cellosaurus GM02558 (CVCL_9R70)

Cross-references
Cell line name	GM02558
Accession	CVCL_9R70
Resource Identification Initiative	To cite this cell line use: GM02558 (RRID:CVCL_9R70)
Comments	Population: African American. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Gln278Ter (c.832C>T); ClinVar=VCV000038433; Zygosity=Heterozygous (PubMed=16465621). Mutation; HGNC; HGNC:29670; GNPTAB; Simple; c.3335+6T>G (IVS17+6T>G); ClinVar=VCV000002773; Zygosity=Heterozygous (PubMed=16465621).
Disease	Mucolipidosis type IIIA (NCIt: C125595) Mucolipidosis type III alpha/beta (ORDO: Orphanet_423461)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	9Y
Category	Finite 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=16465621; DOI=10.1086/500849; PMCID=PMC1380288 Kudo M., Brem M.S., Canfield W.M. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene. Am. J. Hum. Genet. 78:451-463(2006)
Cell line collections (Providers)	Coriell; GM02558
Cell line databases/resources	CLO; CLO_0033440
Encyclopedic resources	Wikidata; Q54837548
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	14