ID   ESi125-A
AC   CVCL_E3UW
SY   [CORD]-FiPSC1-Ep5F-2
DR   hPSCreg; ESi125-A
RX   PubMed=38956727;
WW   https://www.isciii.es/documents/20119/44aefd67-c957-677d-6b56-01023cf0561b
WW   https://www.isciii.es/documents/20119/5363bccf-f83a-f63a-3dfa-d034ed17f6a6
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9454; PROM1; Simple; p.Tyr452Leufs*13 (c.1354dupT); ClinVar=VCV000372711; Zygosity=Homozygous (PubMed=38956727).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 11
ST   D13S317: 12,13
ST   D16S539: 12
ST   D21S11: 28,30
ST   D5S818: 11
ST   D7S820: 8,9
ST   TH01: 9
ST   TPOX: 8,10
ST   vWA: 17,18
DI   NCIt; C212886; Cone-rod dystrophy 12
DI   ORDO; Orphanet_1872; Cone rod dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38956727; DOI=10.1186/s13287-024-03804-2; PMCID=PMC11218195;
RA   Puertas-Neyra K.L., Coco-Martin R.M., Hernandez-Rodriguez L.A.,
RA   Gobelli D.J., Garcia-Ferrer Y., Palma-Vecino R., Telleria J.J.,
RA   Simarro-Grande M., de la Fuente M.A., Fernandez-Bueno I.;
RT   "Clinical exome analysis and targeted gene repair of the c.1354dupT
RT   variant in iPSC lines from patients with PROM1-related retinopathies
RT   exhibiting diverse phenotypes.";
RL   Stem Cell Res. Ther. 15:192.1-192.24(2024).
//