Cellosaurus cell line GM07255 (CVCL

Cross-references
Cell line name	GM07255
Accession	CVCL_9R82
Resource Identification Initiative	To cite this cell line use: GM07255 (RRID:CVCL_9R82)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; 29670; GNPTAB; Simple; p.Lys4Gln (c.10A>C); ClinVar=VCV000002774; Zygosity=Heterozygous (PubMed=16465621).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	53Y
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; GM07255
Cell line databases/resources	CLO; CLO_0035870
Encyclopedic resources	Wikidata; Q54842621
Entry history
Entry creation	23-Feb-2016
Last entry update	29-Jun-2023
Version number	11