Home  |  Contact

Cellosaurus IBMS-iPSC-063-06 (CVCL_A1MC)

[Text version]

Cell line name IBMS-iPSC-063-06
Synonyms IBMSi021-A
Accession CVCL_A1MC
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-063-06 (RRID:CVCL_A1MC)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Chinese; Taiwan.
Misspelling: IBMS-iPSC-063-05; In Cellosaurus releases 36 and 37.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 967; BBS2; Simple; c.534+1G>T; ClinVar=VCV000553927; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=34364070).
Disease Bardet-Biedl syndrome (NCIt: C118632)
Bardet-Biedl syndrome (ORDO: Orphanet_110)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=34364070; DOI=10.1016/j.scr.2021.102480
Ting C.-Y., Huang C.-Y., Chen H.-C., Chiu Y.-W., Hsieh P.C.H., Lee J.-J.
Generation of induced pluripotent stem cells from a Bardet-Biedl syndrome patient carrying a homologous BBS2 c.534 + 1G > T mutation.
Stem Cell Res. 55:102480-102480(2021)

Cross-references
Cell line databases/resources hPSCreg; IBMSi021-A
Biological sample resources BioSamples; SAMEA7332552
Encyclopedic resources Wikidata; Q102114195
Entry history
Entry creation29-Oct-2020
Last entry update23-Sep-2021
Version number4