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Cellosaurus HPIi001-A (CVCL_A5FA)

[Text version]

Cell line name HPIi001-A
Synonyms iPS-6303-C6B3
Accession CVCL_A5FA
Resource Identification Initiative To cite this cell line use: HPIi001-A (RRID:CVCL_A5FA)
Comments From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
Population: Turkish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 129; ACTA1; Simple; p.Arg185Ser (c.553C>A); ClinVar=VCV000420099; Zygosity=Heterozygous (PubMed=33740643).
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_A5FB ! HPIi001-B
Sex of cell Female
Age at sampling 4M
Category Induced pluripotent stem cell
Publications

PubMed=33740643; DOI=10.1016/j.scr.2021.102273
Clayton J.S., Scriba C.K., Romero N.B., Malfatti E., Saker S., Larmonier T., Nowak K.J., Ravenscroft G., Laing N.G., Taylor R.L.
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.
Stem Cell Res. 53:102273-102273(2021)

Cross-references
Cell line databases/resources hPSCreg; HPIi001-A
Encyclopedic resources Wikidata; Q107115356
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2