ID   AG18459
AC   CVCL_X823
DR   CLO; CLO_0011732
DR   Coriell; AG18459
DR   Wikidata; Q54746792
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1391-1G>A (g.2626G>A); ClinVar=VCV000006067; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG18459).
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_X821 ! AG18376
SX   Female
AG   53Y
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 11
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