ID   VHIRi002-A
AC   CVCL_E7T7
SY   C2(RP25)_UiPSC_mR5F_1
DR   BioSamples; SAMEA117479146
DR   hPSCreg; VHIRi002-A
RX   PubMed=39742628;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+C2%28RP25%29+Documento_Deposito_Lineas_iPSC.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo+-+ANEXO+C2%28RP25%29_UiPSC_mR5F_1.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Vall d'Hebron Institut de Recerca (VHIR); Barcelona; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:21555; EYS; Simple; p.Gly2945Glu (c.8834G>A); ClinVar=VCV00083606; Zygosity=Heterozygous (PubMed=39742628).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
ST   Source(s): PubMed=39742628
ST   Amelogenin: X
ST   CSF1PO: 10,13
ST   D13S317: 10,12
ST   D16S539: 9,12
ST   D21S11: 26,32.2
ST   D5S818: 12
ST   D7S820: 11,12
ST   TH01: 6,9.3
ST   TPOX: 8,11
ST   vWA: 16,17
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=39742628; DOI=10.1016/j.scr.2024.103645;
RA   Isla-Magrane, Helena
RA   Zufiaurre-Seijo, Maddalen
RA   Zapata, Miguel Angel
RA   Garcia-Arumi, Josep
RA   Duarri, Anna
RT   "Generation of three human induced pluripotent stem cell lines from
RT   retinitis pigmentosa 25 patient and two carriers but asymptomatic
RT   daughters.";
RL   Stem Cell Res. 82:103645-103645(2025).
//