ID   ICGi038-A
AC   CVCL_B5EN
SY   FH 5.1.2Sh
DR   BioSamples; SAMEA11421032
DR   hPSCreg; ICGi038-A
DR   Wikidata; Q110432915
RX   PubMed=35152178;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; c.940+3_940+6delGAGT; ClinVar=VCV000869390; Zygosity=Heterozygous (PubMed=35152178).
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Arg416Trp (c.1246C>T); ClinVar=VCV000183110; Zygosity=Heterozygous (PubMed=35152178).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35152178; DOI=10.1016/j.scr.2022.102702;
RA   Zakharova I.S., Shevchenko A.I., Tmoyan N.A., Elisaphenko E.A.,
RA   Zubkova E.S., Sleptcov A.A., Nazarenko M.S., Ezhov M.V.,
RA   Kukharchuk V.V., Parfyonova Y.V., Zakian S.M.;
RT   "Induced pluripotent stem cell line ICGi038-A, obtained by
RT   reprogramming peripheral blood mononuclear cells from a patient with
RT   familial hypercholesterolemia due to compound heterozygous c.1246C >
RT   T/c.940 + 3_940 + 6del mutations in LDLR.";
RL   Stem Cell Res. 60:102702-102702(2022).
//