ID   GM23079
AC   CVCL_Y321
DR   Coriell; GM23079
DR   Wikidata; Q54852882
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly588_Pro590delinsValSer (c.1763_1769delGTGCTCCinsTAAG); ClinVar=VCV000101208; Zygosity=Unspecified (Coriell=GM23079).
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)
OI   CVCL_BT11 ! GM23080
SX   Female
AG   32Y
CA   Transformed cell line
DT   Created: 07-11-14; Last updated: 19-12-24; Version: 13
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