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Cellosaurus CVTTHi001-A (CVCL_A1QC)

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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; HGNC:8979; PIK3R1; Simple; c.1425+2delT; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33221676).
Disease Activated phosphatidylinositol-3-OH kinase delta syndrome, type 2 (NCIt: C220695)
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 Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Formulario%2520registro%2520linea%2520iPS-CVTTHi001-A-v2.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Annexes_4-9.pdf
Publications

PubMed=33221676; DOI=10.1016/j.scr.2020.102082
Marta Ingles-Ferrandiz, Myriam Martin-Inaraja, Lara Herrera, Maria Villaverde Suanzes, Silvia Santos, Miguel Angel Vesga, Elena Garreta, Itziar Martin-Ruiz, Ana Maria Aransay, Juan Anguita, Beatriz Barrena ...Show all 14 authors... , Luis Miguel Allende, Luis Ignacio Gonzalez-Granado, Cristina Eguizabal Argaiz; Show fewer authors
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 update27-Nov-2025
Version number10