ID   ID00084
AC   CVCL_2Z34
DR   Coriell; ID00084
DR   Wikidata; Q54897290
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Sequence variation: Mutation; HGNC; 10031; RMRP; Simple; n.-24_-4dupACTACTCTGTGAAGCTGAGGA (n.-24_-4dup21) (g.-25_-5dup); ClinVar=VCV000632969; Zygosity=Heterozygous (Coriell=ID00084).
CC   Sequence variation: Mutation; HGNC; 10031; RMRP; Simple; n.147G>A (146G>A); ClinVar=VCV000379208; Zygosity=Heterozygous (Coriell=ID00084).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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   Male
AG   2Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 13
//