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Cellosaurus MCRIi025-B (CVCL_D0HU)

[Text version]
Cell line name MCRIi025-B
Synonyms CANVAS1-2 Het GC; C1-2 Het GC
Accession CVCL_D0HU
Resource Identification Initiative To cite this cell line use: MCRIi025-B (RRID:CVCL_D0HU)
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=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_D0HT ! MCRIi025-A
Sex of cell Female
Age at sampling 67Y
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; MCRIi025-B
Biological sample resources BioSamples; SAMEA112322128
Encyclopedic resources Wikidata; Q123033012
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3