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Cellosaurus NUIGi041-A (CVCL_YQ98)

[Text version]
Cell line name NUIGi041-A
Synonyms ND3C2
Accession CVCL_YQ98
Resource Identification Initiative To cite this cell line use: NUIGi041-A (RRID:CVCL_YQ98)
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=33578364).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YQ99 ! NUIGi041-B
Sex of cell Male
Age at sampling 20Y
Category Induced pluripotent stem cell
Publications

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; NUIGi041-A
Biological sample resources BioSamples; SAMEA6464735
Encyclopedic resources Wikidata; Q98128211
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6