ID   GM22829
AC   CVCL_BV09
DR   Coriell; GM22829
DR   Wikidata; Q54852812
CC   Sequence variation: Mutation; HGNC; HGNC:2200; COL2A1; Simple; c.3892delT; Zygosity=Heterozygous (Coriell=GM22829).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168733; Stickler syndrome type 1
DI   ORDO; Orphanet_90653; Stickler syndrome type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_BV08 ! GM22828
SX   Male
AG   30Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 10
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