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Cellosaurus GENYOi004-A (CVCL_WM08)

[Text version]
Cell line name GENYOi004-A
Synonyms ASD-PBMC1-iPS4F2; ASD-PBMC-iPS4F2
Accession CVCL_WM08
Resource Identification Initiative To cite this cell line use: GENYOi004-A (RRID:CVCL_WM08)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centre for Genomics and Oncological Research (GENYO); Granada; Spain.
Population: Caucasian; Spanish.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
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 Mental retardation, autosomal dominant 28 (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
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO11
D5S8189,11
D7S8208,12
D13S3179,10
D16S53913
D21S1128
TH018
TPOX8,10
vWA17

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/206/Caracteristicas%20-%20Documento_deposito_lineas_iPS_ASD-PBMC1-iPS4F2.pdf
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
Encyclopedic resources Wikidata; Q93560853
Entry history
Entry creation24-May-2019
Last entry update30-Jan-2024
Version number10