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Cellosaurus JNCHi002-A (CVCL_E4HD)

[Text version]
Cell line name JNCHi002-A
Accession CVCL_E4HD
Resource Identification Initiative To cite this cell line use: JNCHi002-A (RRID:CVCL_E4HD)
Comments From: Jinan Children's Hospital; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Asp129fs (c.387delC); Zygosity=Heterozygous (PubMed=39908959).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=39908959; DOI=10.1016/j.scr.2025.103656
Ru-Jin Tian, Yi-Xiao Li, Hong-Mei Xin, Yue Jiang, Hao-Zheng Zhang, Lin Zhong, Zhong-Tao Gai, Qian-Qian Deng, Chun-Hui Wang, Kai-Hui Zhang;
Generation of a transgene-free Induced pluripotent stem (iPS) cell line (JNCHi002-A) from a female heterozygous carrier of the low density lipoprotein receptor (LDLR) gene mutation (c.387delC).
Stem Cell Res. 84:103656-103656(2025)

Cross-references
Cell line databases/resources hPSCreg; JNCHi002-A
Biological sample resources BioSamples; SAMEA116096868
Entry history
Entry creation19-Dec-2024
Last entry update14-Aug-2025
Version number2