ID   CVTTHi001-A
AC   CVCL_A1QC
DR   BioSamples; SAMEA7274736
DR   hPSCreg; CVTTHi001-A
DR   Wikidata; Q102113762
RX   PubMed=33221676;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/207/Caracteristicas%20-%20Formulario%20registro%20linea%20iPS-CVTTHi001-A-v2.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/207/Anexo%20-%20Annexes_4-9.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro Vasco de Transfusion y Tejidos Humanos; Galdakao; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8979; PIK3R1; Simple; c.1425+2delT; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33221676).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X,Y
ST   CSF1PO: 8,11
ST   D13S317: 13
ST   D16S539: 11,13
ST   D18S51: 12
ST   D19S433: 14
ST   D21S11: 29,31.2
ST   D2S1338: 17,22
ST   D3S1358: 17,18
ST   D5S818: 12,13
ST   D7S820: 8,10
ST   D8S1179: 14,15
ST   FGA: 20,21
ST   TH01: 6
ST   TPOX: 8,9
ST   vWA: 16
DI   NCIt; C176703; PIK3R1-associated immunodeficiency
DI   ORDO; Orphanet_397596; Activated PI3K-delta syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 30-01-24; Version: 7
//
RX   PubMed=33221676; DOI=10.1016/j.scr.2020.102082;
RA   Ingles-Ferrandiz M., Martin-Inaraja M., Herrera L.,
RA   Villaverde Suanzes M., Santos S., Vesga M.A., Garreta E.,
RA   Martin-Ruiz I., Aransay A.M., Anguita J., Barrena B., Allende L.M.,
RA   Gonzalez-Granado L.I., Eguizabal Argaiz C.;
RT   "Generation, establishment and characterization of a pluripotent stem
RT   cell line (CVTTHi001-A) from primary fibroblasts isolated from a
RT   patient with activated PI3 kinase delta syndrome (APDS2).";
RL   Stem Cell Res. 49:102082-102082(2020).
//