ID   GM20214
AC   CVCL_DA84
DR   CLO; CLO_0028000
DR   Coriell; GM20214
DR   Wikidata; Q54850846
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10853; SHOX; Simple; p.Arg153Cys (c.457C>T); Zygosity=Heterozygous (Coriell=GM20214).
CC   Sequence variation: Mutation; HGNC; HGNC:10853; SHOX; Simple; p.Val163Phe (c.487G>T); Zygosity=Heterozygous (Coriell=GM20214).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126876; Langer mesomelic dysplasia
DI   ORDO; Orphanet_2632; Langer mesomelic dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   84Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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