ID   GM16972
AC   CVCL_4D35
DR   CLO; CLO_0018045
DR   Coriell; GM16972
DR   Wikidata; Q54848826
CC   Population: Caucasian; Amish.
CC   Sequence variation: Mutation; HGNC; 2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM16972).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98576; Osteogenesis imperfecta type IV
DI   ORDO; Orphanet_216820; Osteogenesis imperfecta type 4
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   48Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 11
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