Cellosaurus cell line GM17398 (CVCL

Cross-references
Cell line name	GM17398
Accession	CVCL_4F76
Resource Identification Initiative	To cite this cell line use: GM17398 (RRID:CVCL_4F76)
Comments	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.Thr77fs*139 (c.230+1G>T) (IVS2+1G>T); ClinVar=VCV000002159; Zygosity=Homozygous (PubMed=16257970).
Disease	Peroxisome biogenesis disorder 7A (NCIt: C155760) Peroxisome biogenesis disorder (ORDO: Orphanet_79189)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	7M
Category	Finite cell line
Publications	PubMed=16257970; DOI=10.1074/jbc.M510044200 Furuki S., Tamura S., Matsumoto N., Miyata N., Moser A., Moser H.W., Fujiki Y. Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. J. Biol. Chem. 281:1317-1323(2006)
Cell line collections (Providers)	Coriell; GM17398
Cell line databases/resources	CLO; CLO_0012211
Encyclopedic resources	Wikidata; Q54848843
Entry history
Entry creation	22-Sep-2015
Last entry update	19-Dec-2024
Version number	12