ID   GM21567
AC   CVCL_BT48
DR   Coriell; GM21567
DR   Wikidata; Q54851991
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Arg1024Ter (c.3070C>T); ClinVar=VCV000101174; Zygosity=Heterozygous (Coriell=GM21567).
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_BT47 ! GM21566
SX   Male
AG   51Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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