ID   GM22773
AC   CVCL_BV00
DR   Coriell; GM22773
DR   Wikidata; Q54852793
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly762Asp (c.2285G>A); ClinVar=VCV000101377; Zygosity=Unspecified (Coriell=GM22773).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_BU99 ! GM22772
SX   Female
AG   30Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
//