ID   GM26642
AC   CVCL_A2WK
DR   Coriell; GM26642
DR   Wikidata; Q105507082
CC   Sequence variation: Mutation; HGNC; HGNC:2209; COL5A1; Simple; p.Thr1008Met (c.3023C>T); ClinVar=VCV000213047; Zygosity=Heterozygous (Coriell=GM26642).
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   Male
AG   14Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//