ID   GM27894
AC   CVCL_ZW57
DR   Coriell; GM27894
DR   Wikidata; Q102113941
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Gln336Arg (c.1007A>G); ClinVar=VCV000192333; Zygosity=Heterozygous (Coriell=GM27894).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_LH31 ! GM26250
SX   Male
AG   54Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
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