ID   STJUDEi004-A
AC   CVCL_C6ST
SY   INS3
DR   BioSamples; SAMEA111437013
DR   hPSCreg; STJUDEi004-A
DR   Wikidata; Q117704898
CC   From: St. Jude Children's Research Hospital; Memphis; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10402; RPS19; Simple; p.Leu64Pro (c.191T>C); ClinVar=VCV001782649; Zygosity=Heterozygous (hPSCreg=STJUDEi004-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61236; Congenital pure red cell aplasia
DI   ORDO; Orphanet_124; Blackfan-Diamond anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//