ID   GM21459
AC   CVCL_HK85
DR   Coriell; GM21459
DR   Wikidata; Q54851906
CC   Sequence variation: Mutation; HGNC; HGNC:2209; COL5A1; Simple; p.Gly721Argfs*5 (c.2159dupC) (c.2160insC); ClinVar=VCV000213029; Zygosity=Unspecified (Coriell=GM21459).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125696; Ehlers-Danlos syndrome, type I
DI   ORDO; Orphanet_287; Classical Ehlers-Danlos syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   55Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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