ID   GM16513
AC   CVCL_4F73
DR   CLO; CLO_0017490
DR   Coriell; GM16513
DR   Wikidata; Q54848616
CC   Sequence variation: Mutation; HGNC; HGNC:8850; PEX1; Simple; p.Ile700Tyrfs*42 (c.2097dupT); ClinVar=VCV000007519; Zygosity=Heterozygous (Coriell=GM16513).
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)
SX   Male
AG   5M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//