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Cellosaurus SJHi001-A (CVCL_C0HQ)

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Cell line name SJHi001-A
Synonyms 010
Accession CVCL_C0HQ
Resource Identification Initiative To cite this cell line use: SJHi001-A (RRID:CVCL_C0HQ)
Comments From: Shengjing Hospital of China Medical University; Shenyang; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4192; GCGR; Simple; p.Trp83Ter (c.248G>A); Zygosity=Heterozygous (PubMed=35381520).
Disease Monogenic diabetes (NCIt: C129739)
Rare genetic diabetes mellitus (ORDO: Orphanet_183625)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=35381520; DOI=10.1016/j.scr.2022.102745
Yang Liu, Yang Liu, Yun-Bo Jia, Jing Lv, Dan Sun, Ya-Lei Yin, Nan Liu, Ben-Li Su, Guang-Wei Sun;
Generation of an induced pluripotent stem cell (iPSC) line from a diabetic patient with glucagon receptor (GCGR) p.W83X mutation.
Stem Cell Res. 61:102745-102745(2022)

Cross-references
Cell line databases/resources hPSCreg; SJHi001-A
Encyclopedic resources Wikidata; Q112930392
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5