Cellosaurus cell line GM11335 (CVCL

Cellosaurus GM11335 (CVCL_9R30)

Cross-references
Cell line name	GM11335
Accession	CVCL_9R30
Resource Identification Initiative	To cite this cell line use: GM11335 (RRID:CVCL_9R30)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Arg98Trp (c.292C>T); ClinVar=VCV000002152; Zygosity=Homozygous (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	6Y
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=12851857; DOI=10.1086/377004; PMCID=PMC1180364 Naomi Matsumoto, Shigehiko Tamura, Satomi Furuki, Non Miyata, Ann Boody Moser, Nobuyuki Shimozawa, Hugo Wolfgang Moser, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki; 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; GM11335
Cell line databases/resources	CLO; CLO_0026062
Encyclopedic resources	Wikidata; Q54845018
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	14