ID   GM16865
AC   CVCL_9Z52
DR   CLO; CLO_0018130
DR   Coriell; GM16865
DR   Wikidata; Q54848792
RX   PubMed=12851857;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Cys86Valfs*29 (c.254dupT); ClinVar=VCV000002158; Zygosity=Heterozygous (PubMed=12851857).
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Arg98Trp (c.292C>T); ClinVar=VCV000002152; Zygosity=Heterozygous (PubMed=12851857).
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   1Y10M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 14
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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).
//