ID   GM22608
AC   CVCL_BU82
DR   Coriell; GM22608
DR   Wikidata; Q54852661
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Ile256Tyrfs*7 (c.766delA); ClinVar=VCV000101146; Zygosity=Unspecified (Coriell=GM22608).
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   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_286; Vascular Ehlers-Danlos syndrome
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_BU83 ! GM22609
SX   Female
AG   47Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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