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Cellosaurus NUIGi039-B (CVCL_XJ07)

[Text version]
Cell line name NUIGi039-B
Synonyms ND1C5
Accession CVCL_XJ07
Resource Identification Initiative To cite this cell line use: NUIGi039-B (RRID:CVCL_XJ07)
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=33631419).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_XJ06 ! NUIGi039-A
Sex of cell Male
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; NUIGi039-B
Biological sample resources BioSamples; SAMEA6456110
Encyclopedic resources Wikidata; Q98128205
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number8