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Cellosaurus MCRIi024-A-1 (CVCL_A0LH)

[Text version]
Cell line name MCRIi024-A-1
Synonyms ACTA1.Bbc
Accession CVCL_A0LH
Resource Identification Initiative To cite this cell line use: MCRIi024-A-1 (RRID:CVCL_A0LH)
Comments From: Murdoch Children's Research Institute; Melbourne; Australia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 129; ACTA1; Simple_corrected; p.Gly148Asp (c.443G>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34157503).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A0LG (MCRIi024-A)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=34157503; DOI=10.1016/j.scr.2021.102429
Houweling P.J., Coles C.A., Tiong C.F., Nielsen B., Graham A., McDonald P., Suter A., Piers A.T., Forbes R., Ryan M.M., Howden S.E., Lamande S.R., North K.N.
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.
Stem Cell Res. 54:102429-102429(2021)

Cross-references
Cell line databases/resources hPSCreg; MCRIi024-A-1
Encyclopedic resources Wikidata; Q108820867
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4