ID   GM28392
AC   CVCL_C0M2
DR   Coriell; GM28392
DR   Wikidata; Q112929614
CC   Sequence variation: Mutation; HGNC; HGNC:886; ATRX; Simple; p.Arg2085Cys (c.6253C>T); ClinVar=VCV001180765; Zygosity=Hemizygous (Coriell=GM28392).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118631; Alpha thalassemia X-linked mental retardation syndrome
DI   ORDO; Orphanet_847; Alpha-thalassemia-X-linked intellectual disability syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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