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Cellosaurus JHUi003-A (CVCL_A8HK)

[Text version]

Cell line name JHUi003-A
Synonyms 380iC73-7B
Accession CVCL_A8HK
Resource Identification Initiative To cite this cell line use: JHUi003-A (RRID:CVCL_A8HK)
Comments From: Johns Hopkins University; Baltimore; USA.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 9305; PPP2R2B; Repeat_expansion; CAG[69]; ClinVar=VCV000005614; Zygosity=Heterozygous (PubMed=34087983).
  • Mutation; HGNC; 9305; PPP2R2B; Repeat_expansion_edited; CAG[72]; ClinVar=VCV000005614; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34087983).
Disease Spinocerebellar ataxia type 12 (NCIt: C154316)
Spinocerebellar ataxia type 12 (ORDO: Orphanet_98762)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=34087983; DOI=10.1016/j.scr.2021.102346
Feng H.-X., Li Q.-S., Margolis R.L., Li P.P.
Generation of a human induced pluripotent stem cell line JHUi003-A with homozygous mutation for spinocerebellar ataxia type 12 using genome editing.
Stem Cell Res. 53:102346-102346(2021)

Cross-references
Cell line databases/resources hPSCreg; JHUi003-A
Encyclopedic resources Wikidata; Q107115489
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2