ID   GM22051
AC   CVCL_BT83
DR   Coriell; GM22051
DR   Wikidata; Q54852315
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly708Asp (c.2123G>A); ClinVar=VCV001786274; Zygosity=Unspecified (Coriell=GM22051).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125699; Ehlers-Danlos syndrome, type IV
DI   ORDO; Orphanet_286; Vascular Ehlers-Danlos syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   29Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
//