ID   GM17399
AC   CVCL_9Z55
DR   Coriell; GM17399
DR   Wikidata; Q54848844
RX   PubMed=16257970;
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Leu44Pro (c.131T>C); Zygosity=Heterozygous (PubMed=16257970).
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Arg98Trp (c.292C>T); ClinVar=VCV000002152; Zygosity=Heterozygous (PubMed=16257970).
CC   Discontinued: Coriell; GM17399; probable.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C155761; Peroxisome biogenesis disorder 7B
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//
RX   PubMed=16257970; DOI=10.1074/jbc.M510044200;
RA   Furuki S., Tamura S., Matsumoto N., Miyata N., Moser A., Moser H.W.,
RA   Fujiki Y.;
RT   "Mutations in the peroxin Pex26p responsible for peroxisome biogenesis
RT   disorders of complementation group 8 impair its stability, peroxisomal
RT   localization, and interaction with the Pex1p x Pex6p complex.";
RL   J. Biol. Chem. 281:1317-1323(2006).
//