ID   GM25431
AC   CVCL_AY57
DR   Coriell; GM25431
DR   Wikidata; Q54853957
CC   Sequence variation: Mutation; HGNC; HGNC:4087; GABRG2; Simple; p.Pro282Ser (c.844C>T) (p.Pro322Ser, c.964C>T); ClinVar=VCV000625863; Zygosity=Heterozygous (Coriell=GM25431).
CC   Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3020; Seizure disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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