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Cellosaurus MCRIi027-B (CVCL_D0HY)

[Text version]
Cell line name MCRIi027-B
Synonyms CANVAS4-6 Het GC; C4-6 Het GC
Accession CVCL_D0HY
Resource Identification Initiative To cite this cell line use: MCRIi027-B (RRID:CVCL_D0HY)
Comments From: Murdoch Children's Research Institute; Melbourne; Australia.
Population: Caucasian; Greek-Cypriot.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 9969; RFC1; Repeat_expansion; chr4:g.39348425AAAGG[10_25]AAGGG[n]; ClinVar=VCV000986302; Zygosity=Heterozygous (PubMed=36805468).
  • Mutation; HGNC; 9969; RFC1; Repeat_expansion_corrected; chr4:g.39348425AAAGG[10_25]AAGGG[n]; ClinVar=VCV000986302; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (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_D0HX ! MCRIi027-A
Sex of cell Male
Age at sampling 58Y
Category Induced pluripotent stem cell

PubMed=36805468; DOI=10.1016/j.scr.2023.103047
Davies K.C., Bozaoglu K., Lockhart P.J.
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)

Cell line databases/resources hPSCreg; MCRIi027-B
Biological sample resources BioSamples; SAMEA112322134
Encyclopedic resources Wikidata; Q123033016
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2