ID   SZ-ATRX7
AC   CVCL_YX92
SY   ATRX#7
DR   Wikidata; Q98132959
CC   Sequence variation: Mutation; HGNC; HGNC:886; ATRX; Simple; p.Arg37Ter (c.109C>T); ClinVar=VCV000011742; Zygosity=Unspecified (Direct_author_submission).
CC   Miscellaneous: Cell line information from personal communication of Eiges, Rachel.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
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   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 7
//