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Cellosaurus HPIi001-B (CVCL_A5FB)

[Text version]
Cell line name HPIi001-B
Synonyms iPS-6303-R12
Accession CVCL_A5FB
Resource Identification Initiative To cite this cell line use: HPIi001-B (RRID:CVCL_A5FB)
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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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_A5FA ! HPIi001-A
Sex of cell Female
Age at sampling 4M
Category Induced pluripotent stem cell

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)

Cell line databases/resources hPSCreg; HPIi001-B
Biological sample resources BioSamples; SAMEA114562355
Encyclopedic resources Wikidata; Q107115358
Entry history
Entry creation20-May-2021
Last entry update30-Jan-2024
Version number5