ID   NUIGi045-A
AC   CVCL_XJ05
SY   ND2C1
DR   BioSamples; SAMEA6456128
DR   hPSCreg; NUIGi045-A
DR   Wikidata; Q98128222
RX   PubMed=31893021;
RX   PubMed=33578364;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8008; NRXN1; Unexplicit; Ex1-5del; Zygosity=Heterozygous (PubMed=31893021).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C88412; Autism spectrum disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
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RX   PubMed=31893021; DOI=10.1186/s13229-019-0303-3;
RA   Avazzadeh S., McDonagh K., Reilly J., Wang Y.-Q., Boomkamp S.D.,
RA   McInerney V., Krawczyk J., Fitzgerald J., Feerick N., O'Sullivan M.,
RA   Jalali A., Forman E.B., Lynch S.A., Ennis S., Cosemans N., Peeters H.,
RA   Dockery P., O'Brien T., Quinlan L.R., Gallagher L., Shen S.-B.;
RT   "Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from
RT   ASD induced pluripotent stem cells.";
RL   Mol. Autism 10:52.1-52.16(2019).
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RX   PubMed=33578364; DOI=10.1016/j.scr.2021.102222;
RA   Ding Y.-C., O'Brien A., de la Cruz B.M., Yang M.-M., Fitzgerald J.,
RA   Yang G.-M., Li W.-D., McInerney V., Krawczyk J., Lynch S.A., Howard L.,
RA   Allen N.M., O'Brien T., Gallagher L., Shen S.-B.;
RT   "Derivation of iPSC lines from two patients with autism spectrum
RT   disorder carrying NRXN1alpha deletion (NUIGi041-A, NUIG041-B;
RT   NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).";
RL   Stem Cell Res. 52:102222-102222(2021).
//