ID   AG18374
AC   CVCL_X819
DR   CLO; CLO_0011724
DR   Coriell; AG18374
DR   Wikidata; Q54746783
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=AG18374).
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.Cys525Alafs*33 (c.1573delT) (g.2886delT); ClinVar=VCV000006066; Zygosity=Heterozygous (Coriell=AG18374).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3335; Rothmund-Thomson syndrome
DI   ORDO; Orphanet_2909; Rothmund-Thomson syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_X820 ! AG18375
SX   Male
AG   22Y
CA   Transformed cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 16
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