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 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 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