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Cellosaurus HPIi002-A (CVCL_A5FC)

[Text version]
Cell line name HPIi002-A
Synonyms iPS-789-C1
Accession CVCL_A5FC
Resource Identification Initiative To cite this cell line use: HPIi002-A (RRID:CVCL_A5FC)
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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 129; ACTA1; Simple; p.Asp179Asn (c.541G>A); Zygosity=Heterozygous (PubMed=34388489).
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_A5FD ! HPIi002-B
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=34388489; DOI=10.1016/j.scr.2021.102482
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 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.
Stem Cell Res. 55:102482-102482(2021)

Cross-references
Cell line databases/resources hPSCreg; HPIi002-A
Biological sample resources BioSamples; SAMEA114562536
Encyclopedic resources Wikidata; Q107115359
Entry history
Entry creation20-May-2021
Last entry update30-Jan-2024
Version number5