ID   GM22828
AC   CVCL_BV08
DR   Coriell; GM22828
DR   Wikidata; Q54852811
CC   Sequence variation: Mutation; HGNC; HGNC:2200; COL2A1; Simple; c.3892delT; Zygosity=Heterozygous (Coriell=GM22828).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168733; Stickler syndrome type 1
DI   ORDO; Orphanet_90653; Stickler syndrome type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_BV09 ! GM22829
SX   Male
AG   30Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 10
//