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Cellosaurus JNCHi001-A (CVCL_E4HC)

[Text version]
Cell line name JNCHi001-A
Accession CVCL_E4HC
Resource Identification Initiative To cite this cell line use: JNCHi001-A (RRID:CVCL_E4HC)
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:7765; NF1; Simple; c.730+3A>C; Zygosity=Heterozygous (PubMed=39332134).
Disease Neurofibromatosis type 1 (NCIt: C3273)
Neurofibromatosis type 1 (ORDO: Orphanet_636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=39332134; DOI=10.1016/j.scr.2024.103568
Xin H.-M., Li Y.-X., Zhang K.-H., Ji A.-H., Fan M.-L.
Generation of an induced pluripotent stem cell line from a type 1 neurofibromatosis patient with NF1 mutation.
Stem Cell Res. 81:103568-103568(2024)

Cross-references
Cell line databases/resources hPSCreg; JNCHi001-A
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1