Cellosaurus logo
expasy logo

Cellosaurus HPIi004-A (CVCL_C0ZF)

[Text][XML][JSON]
Cell line name HPIi004-A
Synonyms iPS-5964-R3
Accession CVCL_C0ZF
Resource Identification Initiative To cite this cell line use: HPIi004-A (RRID:CVCL_C0ZF)
Comments From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
Population: Caucasian; Romani.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Arg39Ter (c.121C>T); Zygosity=Homozygous (PubMed=35728440).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C0ZG ! HPIi004-B
Sex of cell Male
Age at sampling 1M
Category Induced pluripotent stem cell
Publications

PubMed=35728440; DOI=10.1016/j.scr.2022.102830
Isabella S. Suleski, Robert Smith, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma Beatriz Romero, Peter J. Houweling, Kristen J. Nowak, Nigel G. Laing ...Show all 13 authors... , Rhonda L. Taylor, Joshua S. Clayton; Show fewer authors
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.
Stem Cell Res. 63:102830-102830(2022)

Cross-references
Cell line databases/resources hPSCreg; HPIi004-A
Encyclopedic resources Wikidata; Q114311636
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5