ID   GM28473
AC   CVCL_D6XQ
DR   Coriell; GM28473
CC   Population: Jewish; Syrian.
CC   Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Cys225Arg (c.673T>C); ClinVar=VCV001691714; Zygosity=Heterozygous (Coriell=GM28473).
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)
SX   Female
AG   31Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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