ID   GM17398
AC   CVCL_4F76
DR   CLO; CLO_0012211
DR   Coriell; GM17398
DR   Wikidata; Q54848843
RX   PubMed=16257970;
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Thr77fs*139 (c.230+1G>T) (IVS2+1G>T); ClinVar=VCV000002159; Zygosity=Homozygous (PubMed=16257970).
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   7M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
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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).
//