ID   GM27990
AC   CVCL_C7LM
DR   Coriell; GM27990
DR   Wikidata; Q117704364
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9440; THAP12; Simple; p.Glu105Asnfs*2 (c.312delA); Zygosity=Heterozygous (Coriell=GM27990).
CC   Sequence variation: Mutation; HGNC; HGNC:9440; THAP12; Simple; p.Pro277Thr (c.829C>A); Zygosity=Heterozygous (Coriell=GM27990).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84816; Lennox-Gastaut syndrome
DI   ORDO; Orphanet_2382; Lennox-Gastaut syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C7LL ! GM27988
SX   Female
AG   1Y10M
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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