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Cellosaurus HPIi003-A (CVCL_C0ZE)

[Text version]
Cell line name HPIi003-A
Synonyms iPS-7247-C5
Accession CVCL_C0ZE
Resource Identification Initiative To cite this cell line use: HPIi003-A (RRID:CVCL_C0ZE)
Comments From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
Population: Caucasian; French.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 129; ACTA1; Simple; p.Ala172Glu (c.515C>A); ClinVar=VCV000128261; Zygosity=Heterozygous (PubMed=35728439).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3M
Category Induced pluripotent stem cell

PubMed=35728439; DOI=10.1016/j.scr.2022.102829
Clayton J.S., Suleski I., Vo C., Smith R., Scriba C.K., Saker S., Larmonier T., Malfatti E., Romero N.B., Houweling P.J., Nowak K.J., Ravenscroft G., Laing N.G., Taylor R.L.
Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene.
Stem Cell Res. 63:102829-102829(2022)

Cell line databases/resources hPSCreg; HPIi003-A
Encyclopedic resources Wikidata; Q114311635
Entry history
Entry creation22-Sep-2022
Last entry update21-Mar-2023
Version number3