ID   GM17397
AC   CVCL_9Z53
DR   Coriell; GM17397
DR   Wikidata; Q54848828
RX   PubMed=16257970;
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Pro117Leu (c.350C>T); ClinVar=VCV002138415; Zygosity=Heterozygous (PubMed=16257970).
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Leu153Val (c.457G>C); Zygosity=Heterozygous (PubMed=16257970).
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Arg288fs (c.862delC) (c.861delC); dbSNP=rs267608192; Zygosity=Heterozygous (PubMed=16257970).
CC   Discontinued: Coriell; GM17397; probable.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C155761; Peroxisome biogenesis disorder 7B
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   27Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 10
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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).
//