ID   GM21902
AC   CVCL_HQ14
DR   Coriell; GM21902
DR   Wikidata; Q54852216
CC   Sequence variation: Mutation; HGNC; HGNC:4263; GHR; Simple; p.Val230fs*4 (c.689_690delTA) (fs234Ter); Zygosity=Homozygous (Coriell=GM21902).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129867; Growth hormone insensitivity syndrome
DI   ORDO; Orphanet_633; Laron syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 10
//