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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 sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; p.Trp443Arg (c.1327T>C); ClinVar=VCV000998052; Zygosity=Heterozygous (PubMed=35152179).
  • Mutation; HGNC; 6547; LDLR; Simple; p.Glu714_Ile796del (c.2141-966_2390-330del); Zygosity=Heterozygous (hPSCreg).
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
Zakharova I.S., Shevchenko A.I., Tmoyan N.A., Elisaphenko E.A., Kalinin A.P., Sleptcov A.A., Nazarenko M.S., Ezhov M.V., Kukharchuk V.V., Parfyonova Y.V., Zakian S.M.
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 update17-Mar-2022
Version number2