ID   GM10249
AC   CVCL_W905
DR   CLO; CLO_0029220
DR   Coriell; GM10249
DR   Wikidata; Q54844320
CC   Sequence variation: Mutation; HGNC; HGNC:3349; ENG; Simple; p.Arg437Arg (c.1311G>C) (G1311C); ClinVar=VCV000458335; Zygosity=Unspecified; Note=Splice site mutation (Coriell=GM10249).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35064; Hereditary hemorrhagic telangiectasia
DI   ORDO; Orphanet_774; Hereditary hemorrhagic telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Transformed cell line
DT   Created: 17-07-14; Last updated: 19-12-24; Version: 16
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