Cellosaurus cell line GM17399 (CVCL

Cross-references
Cell line name	GM17399
Accession	CVCL_9Z55
Resource Identification Initiative	To cite this cell line use: GM17399 (RRID:CVCL_9Z55)
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.Leu44Pro (c.131T>C); Zygosity=Heterozygous (PubMed=16257970). Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Arg98Trp (c.292C>T); ClinVar=VCV000002152; 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	3Y
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; GM17399 - Discontinued
Encyclopedic resources	Wikidata; Q54848844
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	13