Cellosaurus cell line ICGi038-A (CVCL

Cellosaurus ICGi038-A (CVCL_B5EN)

Cross-references
Cell line name	ICGi038-A
Synonyms	FH 5.1.2Sh
Accession	CVCL_B5EN
Resource Identification Initiative	To cite this cell line use: ICGi038-A (RRID:CVCL_B5EN)
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; c.940+3_940+6delGAGT; ClinVar=VCV000869390; Zygosity=Heterozygous (PubMed=35152178). Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Arg416Trp (c.1246C>T); ClinVar=VCV000183110; Zygosity=Heterozygous (PubMed=35152178).
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=35152178; DOI=10.1016/j.scr.2022.102702 Zakharova I.S., Shevchenko A.I., Tmoyan N.A., Elisaphenko E.A., Zubkova E.S., Sleptcov A.A., Nazarenko M.S., Ezhov M.V., Kukharchuk V.V., Parfyonova Y.V., Zakian S.M. Induced pluripotent stem cell line ICGi038-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to compound heterozygous c.1246C > T/c.940 + 3_940 + 6del mutations in LDLR. Stem Cell Res. 60:102702-102702(2022)
Cell line databases/resources	hPSCreg; ICGi038-A
Biological sample resources	BioSamples; SAMEA11421032
Encyclopedic resources	Wikidata; Q110432915
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5