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Cellosaurus MCRIi027-B (CVCL_D0HY)

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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; HGNC:9969; RFC1; Repeat_expansion; chr4:g.39348425AAAGG[10_25]AAGGG[n]; ClinVar=VCV000986302; Zygosity=Heterozygous (PubMed=36805468).
  • Mutation; HGNC; 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
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; MCRIi027-B
Biological sample resources BioSamples; SAMEA112322134
Encyclopedic resources Wikidata; Q123033016
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3