ID   NUIGi039-A
AC   CVCL_XJ06
SY   ND1C1
DR   BioSamples; SAMEA6456098
DR   hPSCreg; NUIGi039-A
DR   Wikidata; Q98128204
RX   PubMed=31893021;
RX   PubMed=33631419;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8008; NRXN1; Unexplicit; Ex6-15del; Zygosity=Heterozygous; Note=De novo mutation (PubMed=31893021; PubMed=33631419).
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)
OI   CVCL_XJ07 ! NUIGi039-B
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
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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).
//
RX   PubMed=33631419; DOI=10.1016/j.scr.2021.102254;
RA   Ding Y.-C., O'Brien A., de la Cruz B.M., Yang M.-M., Lu Y.,
RA   Qian X.-H., Yang G.-M., McInerney V., Krawczyk J., Lynch S.A.,
RA   Howard L., Allen N.M., O'Brien T., Gallagher L., Shen S.-B.;
RT   "Derivation of four iPSC lines from a male ASD patient carrying a
RT   deletion in the middle coding region of NRXN1alpha gene (NUIGi039-A
RT   and NUIGi039-B) and a male sibling control (NUIGi040-A and
RT   NUIGi040-B).";
RL   Stem Cell Res. 53:102254-102254(2021).
//