ID   GM07370
AC   CVCL_W726
DR   CLO; CLO_0016942
DR   Coriell; GM07370
DR   Wikidata; Q54842697
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:22965; PEX26; Simple; p.Leu12Profs*103 (c.34dupC) (T35insC); ClinVar=VCV000002154; Zygosity=Homozygous (from autologous cell line GM07371).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C155760; Peroxisome biogenesis disorder 7A
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W727 ! GM07371
SX   Female
AG   2W
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 16
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