ID   ID00079
AC   CVCL_2Z30
DR   Coriell; ID00079
DR   Wikidata; Q54897286
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Sequence variation: Mutation; HGNC; HGNC:10031; RMRP; Simple; n.71A>G (70A>G); ClinVar=VCV000014208; Zygosity=Homozygous (Coriell=ID00079).
CC   Transformant: NCBI_TaxID; 10381; Saimiriine herpesvirus 2 (Herpesvirus saimiri).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61245; Cartilage hair hypoplasia
DI   ORDO; Orphanet_175; Cartilage-hair hypoplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   5Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//