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Cellosaurus SDQLCHi059-A (CVCL_C9JJ)

[Text version]
Cell line name SDQLCHi059-A
Accession CVCL_C9JJ
Resource Identification Initiative To cite this cell line use: SDQLCHi059-A (RRID:CVCL_C9JJ)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7216; MPI; Simple; p.Pro126_His128dupProGlnHis (c.376_384dupCCGCAGCAC); Zygosity=Heterozygous (PubMed=38493608).
  • Mutation; HGNC; 7216; MPI; Simple; p.Ile398Thr (c.1193T>C); ClinVar=VCV000860729; Zygosity=Heterozygous (PubMed=38493608).
Disease Congenital disorder of glycosylation type Ib (NCIt: C206519)
MPI-CDG (ORDO: Orphanet_79319)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6M
Category Induced pluripotent stem cell
Publications

PubMed=38493608; DOI=10.1016/j.scr.2024.103381
Wang B., Yang L., Gao M., Zhang H.-Y., Liu Y., Gai Z.-T.
Establishment of a human induced pluripotent stem cell line (SDQLCHi059-A) from a patient with congenital disorder of glycosylation carrying heterozygous mutation in MPI gene.
Stem Cell Res. 77:103381-103381(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi059-A
Biological sample resources BioSamples; SAMEA115076569
Encyclopedic resources Wikidata; Q123033468
Entry history
Entry creation05-Oct-2023
Last entry update10-Sep-2024
Version number4