ID   GM28475
AC   CVCL_C7MJ
DR   Coriell; GM28475
DR   Wikidata; Q117704392
CC   Population: Jewish; Syrian.
CC   Sequence variation: Mutation; HGNC; HGNC:9081; PLOD1; Simple; p.Gly159Valfs*68 (c.476delG); Zygosity=Homozygous (Coriell=GM28475).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125700; Ehlers-Danlos syndrome, type VI
DI   ORDO; Orphanet_1900; Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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