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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; 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
Joshua S. Clayton, Carolin K. Scriba, Norma Beatriz Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor;
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 update19-Dec-2024
Version number6