ID   PBD009
AC   CVCL_VQ72
DR   Wikidata; Q98128486
RX   PubMed=9398847;
CC   Sequence variation: Mutation; HGNC; HGNC:8850; PEX1; Simple; p.Gly843Asp (c.2528G>4); Zygosity=Heterozygous (PubMed=9398847).
CC   Sequence variation: Mutation; HGNC; HGNC:8850; PEX1; Simple; c.2926+1G>A; ClinVar=VCV000188729; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=9398847).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C155748; Peroxisome biogenesis disorder 1A
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 9
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RX   PubMed=9398847; DOI=10.1038/ng1297-445;
RA   Reuber B.E., Germain-Lee E.L., Collins C.S., Morrell J.C.,
RA   Ameritunga R., Moser H.W., Valle D.L., Gould S.J.;
RT   "Mutations in PEX1 are the most common cause of peroxisome biogenesis
RT   disorders.";
RL   Nat. Genet. 17:445-448(1997).
//