ID   GM21500
AC   CVCL_HK88
DR   Coriell; GM21500
DR   Wikidata; Q54851947
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=GM21500).
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_HK89 ! GM21501
SX   Male
AG   41Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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