ID   GM16866
AC   CVCL_4F75
DR   CLO; CLO_0018133
DR   Coriell; GM16866
DR   Wikidata; Q54848793
RX   PubMed=12851857;
RX   PubMed=16257970;
CC   Population: Caucasian.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C155760; Peroxisome biogenesis disorder 7A
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14FW
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 9
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RX   PubMed=12851857; DOI=10.1086/377004; PMCID=PMC1180364;
RA   Matsumoto N., Tamura S., Furuki S., Miyata N., Moser A., Shimozawa N.,
RA   Moser H.W., Suzuki Y., Kondo N., Fujiki Y.;
RT   "Mutations in novel peroxin gene PEX26 that cause
RT   peroxisome-biogenesis disorders of complementation group 8 provide a
RT   genotype-phenotype correlation.";
RL   Am. J. Hum. Genet. 73:233-246(2003).
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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).
//