Cellosaurus cell line NUIGi039-B (CVCL

Cellosaurus NUIGi039-B (CVCL_XJ07)

Cross-references
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; 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 Yi-Cheng Ding, Aisling O'Brien, Berta Marco de la Cruz, Mei-Mei Yang, Yin Lu, Xiao-Hong Qian, Guang-Ming Yang, Veronica McInerney, Janusz Krawczyk, Sally A. Lynch, Linda Howard ...Show all 15 authors... , Nicholas Mark Allen, Timothy O'Brien, Louise Gallagher, San-Bing Shen; Show fewer authors 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-B
Biological sample resources	BioSamples; SAMEA6456110
Encyclopedic resources	Wikidata; Q98128205
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9