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Cellosaurus IBCHi001-A (CVCL_XC40)

[Text version]
Cell line name IBCHi001-A
Synonyms iDRPLA_8
Accession CVCL_XC40
Resource Identification Initiative To cite this cell line use: IBCHi001-A (RRID:CVCL_XC40)
Comments From: Institute of Bioorganic Chemistry Polish Academy of Sciences; Poznan; Poland.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:3033; ATN1; Repeat_expansion; CAG[68] (g.17267CAG[(54-68)]); ClinVar=VCV000590267; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[16] (PubMed=31374462).
Disease Dentatorubral-pallidoluysian atrophy (NCIt: C122653)
Dentatorubral pallidoluysian atrophy (ORDO: Orphanet_101)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_T902 (GM13716)
Sex of cell Male
Age at sampling 15Y
Category Induced pluripotent stem cell
Publications

PubMed=31374462; DOI=10.1016/j.scr.2019.101512
Emilia Kozlowska, Agata Ciolak, Marta Olejniczak, Agnieszka Fiszer;
Generation of human iPS cell line IBCHi001-A from dentatorubral-pallidoluysian atrophy patient's fibroblasts.
Stem Cell Res. 39:101512-101512(2019)

Cross-references
Cell line databases/resources hPSCreg; IBCHi001-A
Encyclopedic resources Wikidata; Q94312588
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10