ID   GM21566
AC   CVCL_BT47
DR   Coriell; GM21566
DR   Wikidata; Q54851990
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Arg1024Ter (c.3070C>T); ClinVar=VCV000101174; Zygosity=Heterozygous (Coriell=GM21566).
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_BT48 ! GM21567
SX   Male
AG   51Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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