ID   GM21815
AC   CVCL_HL14
DR   Coriell; GM21815
DR   Wikidata; Q54852168
CC   Sequence variation: Mutation; HGNC; HGNC:2209; COL5A1; Simple; p.Gly530Ser (c.1588G>A); ClinVar=VCV000038863; Zygosity=Unspecified (Coriell=GM21815).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125696; Ehlers-Danlos syndrome, type I
DI   ORDO; Orphanet_287; Classical Ehlers-Danlos syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HL13 ! GM21814
SX   Female
AG   49Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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