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Cellosaurus NUIGi045-A (CVCL_XJ05)

[Text version]
Cell line name NUIGi045-A
Synonyms ND2C1
Accession CVCL_XJ05
Resource Identification Initiative To cite this cell line use: NUIGi045-A (RRID:CVCL_XJ05)
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; Ex1-5del; Zygosity=Heterozygous (PubMed=31893021).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 20Y
Category Induced pluripotent stem cell
Publications

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=33578364; DOI=10.1016/j.scr.2021.102222
Ding Y.-C., O'Brien A., de la Cruz B.M., Yang M.-M., Fitzgerald J., Yang G.-M., Li W.-D., McInerney V., Krawczyk J., Lynch S.A., Howard L., Allen N.M., O'Brien T., Gallagher L., Shen S.-B.
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1alpha deletion (NUIGi041-A, NUIG041-B NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).
Stem Cell Res. 52:102222-102222(2021)

Cross-references
Cell line databases/resources hPSCreg; NUIGi045-A
Biological sample resources BioSamples; SAMEA6456128
Encyclopedic resources Wikidata; Q98128222
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7