ID   ESi107-A
AC   CVCL_C9E5
SY   ATTR-CM PBiPS1-Sv4F-3; TAC PBiPS1-Sv4F-3; UNAVi001-A
DR   BioSamples; SAMEA114241720
DR   hPSCreg; ESi107-A
DR   Wikidata; Q123031251
RX   PubMed=37660554;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+ATTR-CM+PBiPS1-Sv4F-3+Solicitud+de+dep%C3%B3sito.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/ATTR-CM%2520PBiPS1-Sv4F-3%2520Anexo.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Institut d'Investigacio Biomedica de Bellvitge (IDIBELL); Barcelona; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12405; TTR; Simple; p.Ser43Asn (c.128G>A); ClinVar=VCV000661615; Zygosity=Heterozygous (PubMed=37660554).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11,14
ST   D16S539: 9,12
ST   D21S11: 31.2,33.2
ST   D5S818: 11
ST   D7S820: 12
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 18,19
DI   NCIt; C165489; Hereditary transthyretin amyloid cardiomyopathy
DI   ORDO; Orphanet_271861; Hereditary ATTR amyloidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-04-25; Version: 4
//
RX   PubMed=37660554; DOI=10.1016/j.scr.2023.103189;
RA   Montero-Calle, Pilar
RA   Flandes-Iparraguirre, Maria
RA   Kuebler, Bernd
RA   Aran, Begona
RA   Larequi, Eduardo
RA   Anaut, Ilazki
RA   Coppiello, Giulia
RA   Aranguren, Xabier L.
RA   Veiga, Anna
RA   Basurte-Elorz, Maria Teresa
RA   de Yebenes-Castro, Manuel Garcia
RA   Gavira, Juan J.
RA   Prosper, Felipe
RA   Iglesias-Garcia, Olalla
RA   Mazo-Vega, Manuel Maria
RT   "Generation of an induced pluripotent stem cell line (ESi107-A) from a
RT   transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a
RT   p.Ser43Asn mutation in the TTR gene.";
RL   Stem Cell Res. 71:103189-103189(2023).
//