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Cellosaurus ICGi037-A (CVCL_B5EK)

[Text version]
Cell line name ICGi037-A
Synonyms FH 3.2.8T
Accession CVCL_B5EK
Resource Identification Initiative To cite this cell line use: ICGi037-A (RRID:CVCL_B5EK)
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.Trp443Arg (c.1327T>C); ClinVar=VCV000998052; Zygosity=Heterozygous (PubMed=35152179).
  • Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Glu714_Ile796del (c.2141-966_2390-330del); Zygosity=Heterozygous (hPSCreg=ICGi037-A).
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 27Y
Category Induced pluripotent stem cell
Publications

PubMed=35152179; DOI=10.1016/j.scr.2022.102703
Irina S. Zakharova, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Alexander P. Kalinin, Aleksei A. Sleptcov, Maria S. Nazarenko, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren Minasovich Zakian;
Induced pluripotent stem cell line ICGi037-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to heterozygous p.Trp443Arg mutations in LDLR.
Stem Cell Res. 60:102703-102703(2022)

Cross-references
Cell line databases/resources hPSCreg; ICGi037-A
Biological sample resources BioSamples; SAMEA11421028
Encyclopedic resources Wikidata; Q110432914
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5