Cellosaurus cell line GM16865 (CVCL

Cross-references
Cell line name	GM16865
Accession	CVCL_9Z52
Resource Identification Initiative	To cite this cell line use: GM16865 (RRID:CVCL_9Z52)
Comments	Population: Caucasian. Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Cys86Valfs*29 (c.254dupT); ClinVar=VCV000002158; Zygosity=Heterozygous (PubMed=12851857). Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Arg98Trp (c.292C>T); ClinVar=VCV000002152; 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	1Y10M
Category	Finite cell line
Publications	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; GM16865
Cell line databases/resources	CLO; CLO_0018130
Encyclopedic resources	Wikidata; Q54848792
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	14