ID   CUIMCi003-A
AC   CVCL_A0KG
SY   THA20_1; THA20.1
DR   BioSamples; SAMEA113468498
DR   hPSCreg; CUIMCi003-A
DR   Wikidata; Q108820095
RX   PubMed=34214899;
RX   PubMed=35390757;
RX   PubMed=35950852;
CC   From: Columbia University Irving Medical Center; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 16876; ARNT2; Simple; p.Pro130Ala (c.388C>G); Zygosity=Heterozygous; Note=De novo mutation (PubMed=34214899; PubMed=35390757).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C178882; Class 3 obesity
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 05-10-23; Version: 7
//
RX   PubMed=34214899; DOI=10.1016/j.scr.2021.102432;
RA   Iannello G., Patel A.L., Sirabella D., Corneo B., Thaker V.V.;
RT   "Generation of the iPSC line CUIMCi003-A derived from a patient with
RT   severe early onset obesity.";
RL   Stem Cell Res. 54:102432-102432(2021).
//
RX   PubMed=35390757; DOI=10.1016/j.scr.2022.102778;
RA   Iannello G., Patel A.L., Sirabella D., Corneo B., Thaker V.V.;
RT   "Corrigendum to 'Generation of the iPSC line CUIMCi003-A derived from
RT   a patient with severe early onset obesity' [Stem Cell Res 54 (2021)
RT   102432].";
RL   Stem Cell Res. 61:102778-102778(2022).
//
RX   PubMed=35950852; DOI=10.1002/cpz1.519;
RA   Patel A.L., Iannello G., Garcia-Diaz A., Sirabella D., Thaker V.V.,
RA   Corneo B.;
RT   "Efficient Cas9-based genome editing using CRISPR analysis webtools in
RT   severe early-onset-obesity patient-derived iPSCs.";
RL   Curr. Protoc. 2:e519.1-e519.25(2022).
//