ID   NUIGi060-A
AC   CVCL_C6RW
SY   EP2C001 C1
DR   BioSamples; SAMEA111562830
DR   hPSCreg; NUIGi060-A
DR   Wikidata; Q117704744
RX   PubMed=37659345;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C6RX ! NUIGi060-B
OI   CVCL_C6RY ! NUIGi060-C
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 05-10-23; Version: 3
//
RX   PubMed=37659345; DOI=10.1016/j.scr.2023.103191;
RA   Stewart, Rachel
RA   Gadoud, Cloe
RA   Krawczyk, Janusz
RA   McInerney, Veronica
RA   O'Brien, Timothy
RA   Shen, San-Bing
RA   Allen, Nicholas Mark
RT   "Generation of three induced pluripotent stem cell lines from a
RT   patient with KCNQ2 developmental and epileptic encephalopathy as a
RT   result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A,
RT   NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A,
RT   NUIGi060-B, NUIGi060-C).";
RL   Stem Cell Res. 71:103191-103191(2023).
//