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Cellosaurus BIUi001-A (CVCL_A0SV)

[Text version]

Cell line name BIUi001-A
Synonyms BIUi-001-A; T1A1i-001
Accession CVCL_A0SV
Resource Identification Initiative To cite this cell line use: BIUi001-A (RRID:CVCL_A0SV)
Comments From: Bar Ilan University; Ramat Gan; Israel.
Population: Arab.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 29456; TOR1AIP1; Simple; p.Arg321Ter (c.961C>T); ClinVar=VCV000804380; Zygosity=Homozygous (PubMed=34560421).
Disease Autosomal recessive limb-girdle muscular dystrophy type 2Y (NCIt: C181000)
TOR1AIP1-related limb-girdle muscular dystrophy (ORDO: Orphanet_424261)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=34560421; DOI=10.1016/j.scr.2021.102539
Ben-Haim Y., Armon L., Fichtman B., Epshtein I., Spiegel R., Harel A., Urbach A.
Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene.
Stem Cell Res. 56:102539-102539(2021)

Cross-references
Cell line databases/resources hPSCreg; BIUi001-A
Biological sample resources BioSamples; SAMEA9462481
Encyclopedic resources Wikidata; Q108819950
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2