ID   GM22778
AC   CVCL_BV01
DR   Coriell; GM22778
DR   Wikidata; Q54852798
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly939Asp (c.2816G>A); Zygosity=Heterozygous (Coriell=GM22778).
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_BV02 ! GM22779
SX   Female
AG   36Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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