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Cellosaurus SDQLCHi042-A (CVCL_A8NH)

[Text version]

Cell line name SDQLCHi042-A
Accession CVCL_A8NH
Resource Identification Initiative To cite this cell line use: SDQLCHi042-A (RRID:CVCL_A8NH)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 6677; LPL; Simple; c.88+1G>C; ClinVar=VCV000001542; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=34087978).
  • Mutation; HGNC; 6677; LPL; Simple; p.Leu279Arg (c.836T>G); ClinVar=VCV000851236; Zygosity=Heterozygous (PubMed=34087978).
Disease Hyperlipoproteinemia, type I (NCIt: C84771)
Familial lipoprotein lipase deficiency (ORDO: Orphanet_309015)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1M
Category Induced pluripotent stem cell
Publications

PubMed=34087978; DOI=10.1016/j.scr.2021.102313
Li Z.-L., Zhang X., Li X.-M., Yang Y.-N., Xin H.-M., Yang X.-M., Liu N., Gai Z.-T., Liu Y.
A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene.
Stem Cell Res. 53:102313-102313(2021)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi042-A
Encyclopedic resources Wikidata; Q108821285
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2