ID   PBD097
AC   CVCL_VQ74
DR   Wikidata; Q98128488
RX   PubMed=9090384;
CC   Sequence variation: Mutation; HGNC; HGNC:8854; PEX12; Simple; p.Leu245Cysfs*19 (c.730_733dupGCCT) (c.733_734insGCCT); ClinVar=VCV000371737; Zygosity=Heterozygous (PubMed=9090384).
CC   Sequence variation: Mutation; HGNC; HGNC:8854; PEX12; Simple; p.Thr249Tyrfs*14 (c.744dupT) (c.744_745insT); ClinVar=VCV000553741; Zygosity=Heterozygous (PubMed=9090384).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C155752; Peroxisome biogenesis disorder 3A
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: 10
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RX   PubMed=9090384; DOI=10.1038/ng0497-385;
RA   Chang C.-C., Lee W.-H., Moser H.W., Valle D.L., Gould S.J.;
RT   "Isolation of the human PEX12 gene, mutated in group 3 of the
RT   peroxisome biogenesis disorders.";
RL   Nat. Genet. 15:385-388(1997).
//