ID   GM07371
AC   CVCL_W727
DR   CLO; CLO_0016943
DR   Coriell; GM07371
DR   Wikidata; Q54842698
RX   PubMed=12851857;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Leu12Profs*103 (c.34dupC) (T35insC); ClinVar=VCV000002154; Zygosity=Homozygous (PubMed=12851857).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C155760; Peroxisome biogenesis disorder 7A
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W726 ! GM07370
SX   Female
AG   3W
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 13
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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).
//