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Cellosaurus CSUXHEi001-A (CVCL_C4S9)

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Cell line name CSUXHEi001-A
Accession CVCL_C4S9
Resource Identification Initiative To cite this cell line use: CSUXHEi001-A (RRID:CVCL_C4S9)
Comments From: Xiangya Hospital of Central South University; Changsha; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8818; SLC26A4; Simple; p.Ser517Phefs*10 (c.1547dupC) (c.1545_1546insC); ClinVar=VCV000188759; Zygosity=Heterozygous (PubMed=36126472).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=36126472; DOI=10.1016/j.scr.2022.102916
Si-Jun Li, Chu-Feng He, Qi Feng, Yi-Jiang Bai, Xian-Lin Liu, Jie Ling, Ling-Yun Mei, Xue-Wen Wu, Yong Feng, Jian Song;
Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene.
Stem Cell Res. 64:102916-102916(2022)

Cross-references
Cell line databases/resources hPSCreg; CSUXHEi001-A
Biological sample resources BioSamples; SAMEA110640177
Encyclopedic resources Wikidata; Q116048807
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number4