Cellosaurus cell line GM17397 (CVCL

Cross-references
Cell line name	GM17397
Accession	CVCL_9Z53
Resource Identification Initiative	To cite this cell line use: GM17397 (RRID:CVCL_9Z53)
Comments	Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Pro117Leu (c.350C>T); ClinVar=VCV002138415; Zygosity=Heterozygous (PubMed=16257970). Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Leu153Val (c.457G>C); Zygosity=Heterozygous (PubMed=16257970). Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Arg288fs (c.862delC) (c.861delC); dbSNP=rs267608192; Zygosity=Heterozygous (PubMed=16257970).
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	27Y
Category	Finite cell line
Publications	PubMed=16257970; DOI=10.1074/jbc.M510044200 Satomi Furuki, Shigehiko Tamura, Naomi Matsumoto, Non Miyata, Ann Boody Moser, Hugo Wolfgang Moser, Yukio Fujiki; 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; GM17397 - Discontinued
Encyclopedic resources	Wikidata; Q54848828
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	10