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Cellosaurus SDQLCHi063-A (CVCL_C9JN)

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Cell line name SDQLCHi063-A
Accession CVCL_C9JN
Resource Identification Initiative To cite this cell line use: SDQLCHi063-A (RRID:CVCL_C9JN)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4195; GCK; Unexplicit; Ex1del; Zygosity=Heterozygous (PubMed=38507882).
Disease Glucokinase-associated diabetes mellitus (NCIt: C129741)
MODY (ORDO: Orphanet_552)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=38507882; DOI=10.1016/j.scr.2024.103389
Min Gao, Xin-Yu Li, Yu-Qiang Lv, Xiao-Meng Yang, Yi Liu, Zhong-Tao Gai;
Generation and characterization of an induced pluripotent stem cell (iPSC) line SDQLCHi063-A from peripheral blood mononuclear cells of a patient with maturity-onset diabetes of the young type 2 carrying GCK exon 1 deletion.
Stem Cell Res. 77:103389-103389(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi063-A
Biological sample resources BioSamples; SAMEA115300943
Encyclopedic resources Wikidata; Q123033473
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number5