ID   CUIMCi003-A-1
AC   CVCL_C1SY
SY   THA20-1 #6 cl11
DR   BioSamples; SAMEA113468435
DR   hPSCreg; CUIMCi003-A-1
DR   Wikidata; Q114311312
RX   PubMed=35950852;
CC   From: Columbia University Irving Medical Center; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 16876; ARNT2; Simple_corrected; p.Pro130Ala (c.388C>G); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35950852).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C178882; Class 3 obesity
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A0KG ! CUIMCi003-A
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 5
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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).
//