ID   STJUDEi005-A-1
AC   CVCL_C6SW
SY   INS14 Isogenic
DR   BioSamples; SAMEA111437018
DR   hPSCreg; STJUDEi005-A-1
DR   Wikidata; Q117704901
CC   From: St. Jude Children's Research Hospital; Memphis; USA.
CC   Sequence variation: Mutation; HGNC; 10402; RPS19; Simple_corrected; p.Arg62Trp (c.184C>T); ClinVar=VCV000006314; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=STJUDEi005-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_C6SV ! STJUDEi005-A
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 02-05-24; Version: 3
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