Cellosaurus cell line JHUi003-A (CVCL

Cross-references
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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9305; PPP2R2B; Repeat_expansion; CAG[69]; ClinVar=VCV000005614; Zygosity=Heterozygous (PubMed=34087983). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; JHUi003-A
Encyclopedic resources	Wikidata; Q107115489
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5