ID   GM21662
AC   CVCL_HL07
DR   Coriell; GM21662
DR   Wikidata; Q54852064
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly540Arg (c.1618G>A); ClinVar=VCV000101297; Zygosity=Heterozygous (Coriell=GM21662).
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_HL08 ! GM21663
SX   Female
AG   40Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 10
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