ID   JHUi003-A
AC   CVCL_A8HK
SY   380iC73-7B
DR   hPSCreg; JHUi003-A
DR   Wikidata; Q107115489
RX   PubMed=34087983;
CC   From: Johns Hopkins University; Baltimore; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9305; PPP2R2B; Repeat_expansion; CAG[69]; ClinVar=VCV000005614; Zygosity=Heterozygous (PubMed=34087983).
CC   Sequence variation: Mutation; HGNC; 9305; PPP2R2B; Repeat_expansion_edited; CAG[72]; ClinVar=VCV000005614; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34087983).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C154316; Spinocerebellar ataxia type 12
DI   ORDO; Orphanet_98762; Spinocerebellar ataxia type 12
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34087983; DOI=10.1016/j.scr.2021.102346;
RA   Feng H.-X., Li Q.-S., Margolis R.L., Li P.P.;
RT   "Generation of a human induced pluripotent stem cell line JHUi003-A
RT   with homozygous mutation for spinocerebellar ataxia type 12 using
RT   genome editing.";
RL   Stem Cell Res. 53:102346-102346(2021).
//