ID   STJUDEi004-A-1
AC   CVCL_C6SU
SY   INS3 Isogenic
DR   BioSamples; SAMEA111437015
DR   hPSCreg; STJUDEi004-A-1
DR   Wikidata; Q117704899
CC   From: St. Jude Children's Research Hospital; Memphis; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10402; RPS19; Simple_corrected; p.Leu64Pro (c.191T>C); ClinVar=VCV001782649; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=STJUDEi004-A-1).
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)
HI   CVCL_C6ST ! STJUDEi004-A
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
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