ID   GM22607
AC   CVCL_BU81
DR   Coriell; GM22607
DR   Wikidata; Q54852660
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Ile256Tyrfs*7 (c.766delA); ClinVar=VCV000101146; Zygosity=Unspecified (Coriell=GM22607).
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   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_286; Vascular Ehlers-Danlos syndrome
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_BU80 ! GM22606
SX   Female
AG   44Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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