ID   GM21508
AC   CVCL_HK91
DR   Coriell; GM21508
DR   Wikidata; Q54851954
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly252Val (c.755G>T); ClinVar=VCV000101156; Zygosity=Unspecified (Coriell=GM21508).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_HK90 ! GM21507
SX   Male
AG   26Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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