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Cellosaurus MCRIi026-A (CVCL_D0HV)

[Text version]
Cell line name MCRIi026-A
Synonyms CANVAS3-2; C3-2
Accession CVCL_D0HV
Resource Identification Initiative To cite this cell line use: MCRIi026-A (RRID:CVCL_D0HV)
Comments From: Murdoch Children's Research Institute; Melbourne; Australia.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:9969; RFC1; Repeat_expansion; chr4:g.39348425AAAGG[10_25]AAGGG[n]; ClinVar=VCV000986302; Zygosity=Homozygous (PubMed=36805468).
Disease Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (NCIt: C202046)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (ORDO: Orphanet_504476)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D0HW ! MCRIi026-B
Sex of cell Female
Age at sampling 61Y
Category Induced pluripotent stem cell
Publications

PubMed=36805468; DOI=10.1016/j.scr.2023.103047
Kayli C. Davies, Kiymet Bozaoglu, Paul J. Lockhart;
Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1.
Stem Cell Res. 68:103047-103047(2023)

Cross-references
Cell line databases/resources hPSCreg; MCRIi026-A
Biological sample resources BioSamples; SAMEA112322129
Encyclopedic resources Wikidata; Q123033013
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3