ID   GM13425
AC   CVCL_AN08
DR   CLO; CLO_0012644
DR   BioSample; SAMN00802360
DR   Coriell; GM13425
DR   Wikidata; Q54846517
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9081; PLOD1; Simple; p.Glu532del (c.1594_1596delGAG); ClinVar=VCV000014367; Zygosity=Heterozygous (Coriell=GM13425).
CC   Sequence variation: Mutation; HGNC; HGNC:9081; PLOD1; Simple; p.Gly678Arg (c.2032G>A); ClinVar=VCV000014366; Zygosity=Heterozygous (Coriell=GM13425).
CC   Cell type: Fibroblast; CL=CL_0000057.
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   Male
AG   7Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 17
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