ID   GM20215
AC   CVCL_DA85
DR   CLO; CLO_0027996
DR   Coriell; GM20215
DR   Wikidata; Q54850847
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10853; SHOX; Simple; p.Pro244Alafs*147 (c.728dupC) (ins723C); ClinVar=VCV000009880; Zygosity=Hemizygous or homozygous (Coriell=GM20215).
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   Male
AG   65Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
//