ID   SDQLCHi042-A
AC   CVCL_A8NH
DR   hPSCreg; SDQLCHi042-A
DR   Wikidata; Q108821285
RX   PubMed=34087978;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6677; LPL; Simple; c.88+1G>C; ClinVar=VCV000001542; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=34087978).
CC   Sequence variation: Mutation; HGNC; 6677; LPL; Simple; p.Leu279Arg (c.836T>G); ClinVar=VCV000851236; Zygosity=Heterozygous (PubMed=34087978).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C84771; Hyperlipoproteinemia, type I
DI   ORDO; Orphanet_309015; Familial lipoprotein lipase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   1M
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 16-12-21; Version: 2
//
RX   PubMed=34087978; DOI=10.1016/j.scr.2021.102313;
RA   Li Z.-L., Zhang X., Li X.-M., Yang Y.-N., Xin H.-M., Yang X.-M.,
RA   Liu N., Gai Z.-T., Liu Y.;
RT   "A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from
RT   familial combined hyperlipidemia with compound heterozygous mutations
RT   of lipoprotein lipase gene.";
RL   Stem Cell Res. 53:102313-102313(2021).
//