ID   GM21867
AC   CVCL_HL32
DR   Coriell; GM21867
DR   Wikidata; Q54852189
CC   Sequence variation: Mutation; HGNC; HGNC:12731; WAS; Simple; c.449+5G>A (IVS6+5G>A); Zygosity=Unspecified; Note=Activates a cryptic splice site (Coriell=GM21867).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3448; Wiskott-Aldrich syndrome
DI   ORDO; Orphanet_906; Wiskott-Aldrich syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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