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Cellosaurus CVTTHi001-A (CVCL_A1QC)

[Text version]
Cell line name CVTTHi001-A
Accession CVCL_A1QC
Resource Identification Initiative To cite this cell line use: CVTTHi001-A (RRID:CVCL_A1QC)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro Vasco de Transfusion y Tejidos Humanos; Galdakao; Spain.
Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8979; PIK3R1; Simple; c.1425+2delT; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33221676).
Disease PIK3R1-associated immunodeficiency (NCIt: C176703)
Activated PI3K-delta syndrome (ORDO: Orphanet_397596)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 22Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO8,11
D2S133817,22
D3S135817,18
D5S81812,13
D7S8208,10
D8S117914,15
D13S31713
D16S53911,13
D18S5112
D19S43314
D21S1129,31.2
FGA20,21
TH016
TPOX8,9
vWA16

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/207/Caracteristicas%20-%20Formulario%20registro%20linea%20iPS-CVTTHi001-A-v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/207/Anexo%20-%20Annexes_4-9.pdf
Publications

PubMed=33221676; DOI=10.1016/j.scr.2020.102082
Ingles-Ferrandiz M., Martin-Inaraja M., Herrera L., Villaverde M., Santos S., Vesga M.A., Garreta E., Martin-Ruiz I., Aransay A.M., Anguita J., Barrena B., Allende L.M., Gonzalez-Granado L.I., Eguizabal C.
Generation, establishment and characterization of a pluripotent stem cell line (CVTTHi001-A) from primary fibroblasts isolated from a patient with activated PI3 kinase delta syndrome (APDS2).
Stem Cell Res. 49:102082-102082(2020)

Cross-references
Cell line databases/resources hPSCreg; CVTTHi001-A
Biological sample resources BioSamples; SAMEA7274736
Encyclopedic resources Wikidata; Q102113762
Entry history
Entry creation29-Oct-2020
Last entry update30-Jan-2024
Version number7