Cellosaurus cell line GM02527 (CVCL

Cross-references
Cell line name	GM02527
Accession	CVCL_9Q80
Resource Identification Initiative	To cite this cell line use: GM02527 (RRID:CVCL_9Q80)
Comments	Population: Jewish; Ashkenazi. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:13356; MCOLN1; Simple; c.511del6434 (Ex1-7del) (delta6432); Zygosity=Homozygous (PubMed=11013137).
Disease	Mucolipidosis type IV (NCIt: C84896) Mucolipidosis type IV (ORDO: Orphanet_578)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Finite cell line
Publications	CLPUB00447 Richard A. Mulivor, Sharon F. Suchy; 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=11013137; DOI=10.1016/S0002-9297(07)62941-3; PMCID=PMC1288553 Maria T. Bassi, Marta Manzoni, Eugenio Monti, Maria T. Pizzo, Andrea Ballabio, Giuseppe Borsani; Cloning of the gene encoding a novel integral membrane protein, mucolipidin -- and identification of the two major founder mutations causing mucolipidosis type IV. Am. J. Hum. Genet. 67:1110-1120(2000)
Cell line collections (Providers)	Coriell; GM02527
Cell line databases/resources	CLO; CLO_0033419
Encyclopedic resources	Wikidata; Q54837532
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	12