ID   MCRIi025-B
AC   CVCL_D0HU
SY   CANVAS1-2 Het GC; C1-2 Het GC
DR   BioSamples; SAMEA112322128
DR   hPSCreg; MCRIi025-B
DR   Wikidata; Q123033012
RX   PubMed=36805468;
CC   From: Murdoch Children's Research Institute; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9969; RFC1; Repeat_expansion; chr4:g.39348425AAAGG[10_25]AAGGG[n]; ClinVar=VCV000986302; Zygosity=Heterozygous (PubMed=36805468).
CC   Sequence variation: Mutation; HGNC; 9969; RFC1; Repeat_expansion_corrected; chr4:g.39348425AAAGG[10_25]AAGGG[n]; ClinVar=VCV000986302; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36805468).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C202046; Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
DI   ORDO; Orphanet_504476; Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0HT ! MCRIi025-A
SX   Female
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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RX   PubMed=36805468; DOI=10.1016/j.scr.2023.103047;
RA   Davies K.C., Bozaoglu K., Lockhart P.J.;
RT   "Generation and heterozygous repair of human iPSC lines from three
RT   individuals with cerebellar ataxia, neuropathy and vestibular
RT   areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in
RT   RFC1.";
RL   Stem Cell Res. 68:103047-103047(2023).
//