Cellosaurus cell line GM08771 (CVCL

Cellosaurus GM08771 (CVCL_9Z45)

Cross-references
Cell line name	GM08771
Accession	CVCL_9Z45
Resource Identification Initiative	To cite this cell line use: GM08771 (RRID:CVCL_9Z45)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; 22965; PEX26; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV000002156; Zygosity=Heterozygous (PubMed=12851857). Mutation; HGNC; 22965; PEX26; Simple; p.Leu45Pro (c.134T>C); ClinVar=VCV000002157; Zygosity=Heterozygous (PubMed=12851857).
Disease	Peroxisome biogenesis disorder 7B (NCIt: C155761) Peroxisome biogenesis disorder (ORDO: Orphanet_79189)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	4Y
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=12851857; DOI=10.1086/377004; PMCID=PMC1180364 Matsumoto N., Tamura S., Furuki S., Miyata N., Moser A., Shimozawa N., Moser H.W., Suzuki Y., Kondo N., Fujiki Y. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am. J. Hum. Genet. 73:233-246(2003)
Cell line collections (Providers)	Coriell; GM08771
Cell line databases/resources	CLO; CLO_0010498
Biological sample resources	BioSample; SAMN00798182
Encyclopedic resources	Wikidata; Q54843287
Entry history
Entry creation	23-Feb-2016
Last entry update	29-Jun-2023
Version number	12