ID   GM28074
AC   CVCL_D2ZZ
DR   Coriell; GM28074
DR   Wikidata; Q127380911
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:14631; ADAMTSL2; Simple; p.Arg61His (c.182G>A); Zygosity=Heterozygous (Coriell=GM28074).
CC   Sequence variation: Mutation; HGNC; HGNC:14631; ADAMTSL2; Simple; p.Ala165Thr (c.493G>A); ClinVar=VCV000524194; Zygosity=Heterozygous (Coriell=GM28074).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C202607; Geleophysic dysplasia 1
DI   ORDO; Orphanet_2623; Geleophysic dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y6M
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//