ID   ICGi037-A
SY   FH 3.2.8T
DR   BioSamples; SAMEA11421028
DR   hPSCreg; ICGi037-A
DR   Wikidata; Q110432914
RX   PubMed=35152179;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Trp443Arg (c.1327T>C); ClinVar=VCV000998052; Zygosity=Heterozygous (PubMed=35152179).
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Glu714_Ile796del (c.2141-966_2390-330del); Zygosity=Heterozygous (hPSCreg).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 17-03-22; Version: 2
RX   PubMed=35152179; DOI=10.1016/j.scr.2022.102703;
RA   Zakharova I.S., Shevchenko A.I., Tmoyan N.A., Elisaphenko E.A.,
RA   Kalinin A.P., 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 ICGi037-A, obtained by
RT   reprogramming peripheral blood mononuclear cells from a patient with
RT   familial hypercholesterolemia due to heterozygous p.Trp443Arg
RT   mutations in LDLR.";
RL   Stem Cell Res. 60:102703-102703(2022).