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Cellosaurus NUIGi039-A (CVCL_XJ06)

[Text version]
Cell line name NUIGi039-A
Synonyms ND1C1
Accession CVCL_XJ06
Resource Identification Initiative To cite this cell line use: NUIGi039-A (RRID:CVCL_XJ06)
Comments From: National University of Ireland Galway; Galway; Ireland.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8008; NRXN1; Unexplicit; Ex6-15del; Zygosity=Heterozygous; Note=De novo mutation (PubMed=31893021; PubMed=33631419).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_XJ07 ! NUIGi039-B
Sex of cell Male
Age at sampling 8Y
Category Induced pluripotent stem cell

PubMed=31893021; DOI=10.1186/s13229-019-0303-3
Avazzadeh S., McDonagh K., Reilly J., Wang Y.-Q., Boomkamp S.D., McInerney V., Krawczyk J., Fitzgerald J., Feerick N., O'Sullivan M., Jalali A., Forman E.B., Lynch S.A., Ennis S., Cosemans N., Peeters H., Dockery P., O'Brien T., Quinlan L.R., Gallagher L., Shen S.-B.
Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells.
Mol. Autism 10:52.1-52.16(2019)

PubMed=33631419; DOI=10.1016/j.scr.2021.102254
Ding Y.-C., O'Brien A., de la Cruz B.M., Yang M.-M., Lu Y., Qian X.-H., Yang G.-M., McInerney V., Krawczyk J., Lynch S.A., Howard L., Allen N.M., O'Brien T., Gallagher L., Shen S.-B.
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1alpha gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B).
Stem Cell Res. 53:102254-102254(2021)

Cell line databases/resources hPSCreg; NUIGi039-A
Biological sample resources BioSamples; SAMEA6456098
Encyclopedic resources Wikidata; Q98128204
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number8