ID   GM16835
AC   CVCL_V437
DR   CLO; CLO_0018413
DR   BioSample; SAMN00804720
DR   Coriell; GM16835
DR   Wikidata; Q54848764
CC   Population: Caucasian; Amish.
CC   Sequence variation: Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM16835).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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)
OI   CVCL_V436 ! GM16834
SX   Female
AG   33Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 15
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