ID   GM22779
AC   CVCL_BV02
DR   Coriell; GM22779
DR   Wikidata; Q54852799
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly939Asp (c.2816G>A); Zygosity=Heterozygous (Coriell=GM22779).
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_BV01 ! GM22778
SX   Female
AG   36Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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