ID   AG18465
AC   CVCL_X824
DR   CLO; CLO_0011738
DR   Coriell; AG18465
DR   Wikidata; Q54746798
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.Gln810Ter (c.2428C>T) (g.4503C>T); Zygosity=Homozygous (Coriell=AG18465).
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)
SX   Male
AG   13Y
CA   Transformed cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 12
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