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Cellosaurus GENYOi004-A (CVCL_WM08)

[Text version]

Cell line name GENYOi004-A
Synonyms ASD-PBMC-iPS4F2
Accession CVCL_WM08
Resource Identification Initiative To cite this cell line use: GENYOi004-A (RRID:CVCL_WM08)
Comments From: Centre for Genomics and Oncological Research (GENYO); Granada; Spain.
Sequence variations Heterozygous for ADNP p.Tyr719Ter (c.2157C>G) (PubMed=31035039).
HLA typing Source: PubMed=31035039
Class I
HLA-AA*03,24
HLA-BB*35,55
Class II
HLA-DQDQA1*01,01
DQB1*05:03,05:03
HLA-DRDRB1*14:01,14:01
Disease Helsmoortel-van der Aa syndrome (NCIt: C160662)
ADNP syndrome (ORDO: Orphanet_404448)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=31035039; DOI=10.1016/j.scr.2019.101446
Montes R., Mollinedo P., Perales S., Gonzalez-Lamuno D., Ramos-Mejia V., Fernandez-Luna J.L., Real P.J.
GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation.
Stem Cell Res. 37:101446-101446(2019)

Cross-references
Cell line databases/resources hPSCreg; GENYOi004-A
Biological sample resources BioSamples; SAMEA5679957
Entry history
Entry creation24-May-2019
Last entry updated12-Mar-20
Version number4