ID   GM28378
AC   CVCL_C7MH
DR   Coriell; GM28378
DR   Wikidata; Q117704390
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Gln1673Serfs*43 (c.5015dupG) (p.Gln1674Serfs*43, c.5018dupG); ClinVar=VCV001679533; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28378).
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   Female
AG   4Y
CA   Transformed cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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