Cellosaurus cell line GENYOi004-A (CVCL

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

Mutation; HGNC; HGNC:15766; ADNP; Simple; p.Tyr719Ter (c.2157C>G); ClinVar=VCV000139635; Zygosity=Heterozygous (PubMed=31035039).

HLA typing

Source: PubMed=31035039

Class I
HLA-A	A*03,24
HLA-B	B*35,55
Class II
HLA-DQ	DQA1*01,01
	DQB1*05:03,05:03
HLA-DR	DRB1*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

Category

Induced pluripotent stem cell

STR profile

Source(s): BNLC

Markers:

Amelogenin	X
CSF1PO	11
D5S818	9,11
D7S820	8,12
D13S317	9,10
D16S539	13
D21S11	28
TH01	8
TPOX	8,10
vWA	17

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 creation

24-May-2019

Last entry update

19-Dec-2024

Version number