ID   HyCyte GM12878 hSLC26A4_ p.N392Y_c.1174A>T cell line
AC   CVCL_F4KJ
SY   hSLC26A4_ p.N392Y_c.1174A>T cell line
DR   Hysigen; CGMU-M2268
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   Doubling time: 24-48 hours (Hysigen=CGMU-M2268).
CC   Sequence variation: Mutation; HGNC; HGNC:2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:8818; SLC26A4; Simple_edited; p.N392Y (NM_000441.2:c.1174A>T); Zygosity=Homozygous (Hysigen=CGMU-M2268).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_7526 ! GM12878
SX   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 25-06-26; Last updated: 25-06-26; Version: 1
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