ID   GM21501
AC   CVCL_HK89
DR   Coriell; GM21501
DR   Wikidata; Q54851948
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.997-2A>G (IVS15-2A>G) (p.Gly333_Lys350del+); ClinVar=VCV000101317; Zygosity=Unspecified; Note=Splice acceptor mutation (Coriell=GM21501).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125699; Ehlers-Danlos syndrome, type IV
DI   ORDO; Orphanet_286; Vascular Ehlers-Danlos syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HK88 ! GM21500
SX   Male
AG   41Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
//