Cellosaurus cell line GM07371 (CVCL

Cross-references
Cell line name	GM07371
Accession	CVCL_W727
Resource Identification Initiative	To cite this cell line use: GM07371 (RRID:CVCL_W727)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Leu12Profs*103 (c.34dupC) (T35insC); ClinVar=VCV000002154; Zygosity=Homozygous (PubMed=12851857).
Disease	Peroxisome biogenesis disorder 7A (NCIt: C155760) Peroxisome biogenesis disorder (ORDO: Orphanet_79189)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_W726 ! GM07370
Sex of cell	Female
Age at sampling	3W
Category	Finite cell line
Publications	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; GM07371
Cell line databases/resources	CLO; CLO_0016943
Encyclopedic resources	Wikidata; Q54842698
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	13