ID   GM22753
AC   CVCL_BU95
DR   Coriell; GM22753
DR   Wikidata; Q54852778
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly177_Pro194del (c.582+5G>A) (IVS8+5G>A); ClinVar=VCV000101425; Zygosity=Unspecified (Coriell=GM22753).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
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_BU94 ! GM22752
SX   Female
AG   47Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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