ID   GM22659
AC   CVCL_DN52
DR   Coriell; GM22659
DR   Wikidata; Q54852701
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:2186; COL11A1; Simple; c.3816+1G>A (IVS50+1G>A); ClinVar=VCV000039776; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM22659).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C128115; Marshall syndrome
DI   ORDO; Orphanet_560; Marshall syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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