Cellosaurus cell line SDQLCHi042-A (CVCL

Cross-references
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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6677; LPL; Simple; c.88+1G>C; ClinVar=VCV000001542; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=34087978). Mutation; HGNC; 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 Zi-Long Li, Xue Zhang, Xiao-Mei Li, Ya-Nan Yang, Hong-Mei Xin, Xiao-Meng Yang, Ning Liu, Zhong-Tao Gai, Yi Liu; 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)
Cell line databases/resources	hPSCreg; SDQLCHi042-A
Encyclopedic resources	Wikidata; Q108821285
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5