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Cellosaurus HUSTTJi001-A (CVCL_B3TA)

[Text version]
Cell line name HUSTTJi001-A
Accession CVCL_B3TA
Resource Identification Initiative To cite this cell line use: HUSTTJi001-A (RRID:CVCL_B3TA)
Comments From: Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology; Wuhan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 14539; RNF213; Simple; p.Arg4810Lys (c.14429G>A); ClinVar=VCV000039700; Zygosity=Heterozygous (PubMed=34749017).
Disease Moyamoya disease 2 (NCIt: C183312)
Moyamoya disease (ORDO: Orphanet_2573)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=34749017; DOI=10.1016/j.scr.2021.102575
Mao Z.-J., Li Y.-J., Huang L.-J., Chen Y.-Q., Luo H.-M., Zhang S.-M., Chen H.
Generation of an induced pluripotent stem cell line HUSTTJi001-A from a Moyamoya disease patient with RNF213 gene mutation.
Stem Cell Res. 57:102575-102575(2021)

Cross-references
Cell line databases/resources hPSCreg; HUSTTJi001-A
Biological sample resources BioSamples; SAMEA9537268
Encyclopedic resources Wikidata; Q110432900
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4