Cellosaurus cell line ICGi036-A (CVCL

Cellosaurus ICGi036-A (CVCL_B5EJ)

Cross-references
Cell line name	ICGi036-A
Synonyms	FH 1.3.1S
Accession	CVCL_B5EJ
Resource Identification Initiative	To cite this cell line use: ICGi036-A (RRID:CVCL_B5EJ)
Comments	From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Ser177Leu (c.530C>T); ClinVar=VCV000003686; Zygosity=Heterozygous (PubMed=34999421). Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Cys352Arg (c.1054T>C); ClinVar=VCV000251618; Zygosity=Heterozygous (PubMed=34999421).
Disease	Hyperlipoproteinemia, type IIa (NCIt: C123416) Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	32Y
Category	Induced pluripotent stem cell
Publications	PubMed=34999421; DOI=10.1016/j.scr.2022.102653 Irina S. Zakharova, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny Anatolievich Elisaphenko, Ekaterina S. Zubkova, Aleksei A. Sleptcov, Maria S. Nazarenko, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren Minasovich Zakian; Induced pluripotent stem cell line ICGi036-A generated by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia caused due to compound heterozygous p.Ser177Leu/p.Cys352Arg mutations in LDLR. Stem Cell Res. 59:102653-102653(2022)
Cell line databases/resources	hPSCreg; ICGi036-A
Biological sample resources	BioSamples; SAMEA10985996
Encyclopedic resources	Wikidata; Q110432913
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5