ID   GM26594
AC   CVCL_RT80
DR   Coriell; GM26594
DR   Wikidata; Q54854112
CC   Sequence variation: Mutation; HGNC; HGNC:1397; CACNA1S; Simple; p.Thr1354Ser (c.4060A>T); ClinVar=VCV000161208; Zygosity=Heterozygous (Coriell=GM26594).
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gly310Gly (c.930C>T); ClinVar=VCV000221583; Zygosity=Heterozygous (Coriell=GM26594).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RT79 ! GM26593
SX   Female
AG   45Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
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