Cellosaurus cell line GM00113 (CVCL

Cellosaurus GM00113 (CVCL_9R60)

Cross-references
Cell line name	GM00113
Synonyms	GM-113; GM00113A
Accession	CVCL_9R60
Resource Identification Initiative	To cite this cell line use: GM00113 (RRID:CVCL_9R60)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; 29670; GNPTAB; Simple; p.Lys4Gln (c.10A>C); ClinVar=VCV000002774; Zygosity=Homozygous (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	2Y
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992) PubMed=16465621; DOI=10.1086/500849 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; GM00113
Cell line databases/resources	CLO; CLO_0025825
Encyclopedic resources	Wikidata; Q54836046
Entry history
Entry creation	23-Feb-2016
Last entry update	29-Jun-2023
Version number	13