ID   GM28544
AC   CVCL_C0M8
DR   Coriell; GM28544
DR   Wikidata; Q112929622
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Val1392Met (c.4174G>A); ClinVar=VCV000195935; Zygosity=Mosaic (Coriell=GM28544).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   47Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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