ID   ESi086-A-2
AC   CVCL_A8KV
SY   CBiPS8-3F-4 GATA2 R398W-8
DR   hPSCreg; ESi086-A-2
DR   Wikidata; Q108820199
RX   PubMed=34284273;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/230/Caracteristicas%20-%20CBiPS8-3F-4%20GATA2-R398W-8%20Solicitud%20de%20dep%c3%b3sito.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/230/Anexo%20-%20CBiPS8-3F-4%20GATA2-R398W-8%20Anexo.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   Sequence variation: Mutation; HGNC; 4171; GATA2; Simple_edited; p.Arg398Trp (c.1192C>T); ClinVar=VCV000029709; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34284273).
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
ST   Source(s): BNLC
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 11,12
ST   D16S539: 12,13
ST   D21S11: 29,31
ST   D5S818: 9,12
ST   D7S820: 8,9
ST   TH01: 6
ST   TPOX: 8,12
ST   vWA: 18,19
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8KT ! ESi086-A
SX   Male
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 30-01-24; Version: 5
//
RX   PubMed=34284273; DOI=10.1016/j.scr.2021.102445;
RA   Castano J., Romero-Moya D., Richaud-Patin Y., Giorgetti A.;
RT   "Generation of two heterozygous GATA2 CRISPR/Cas9-edited iPSC lines,
RT   R398W and R396Q, for modeling GATA2 deficiency.";
RL   Stem Cell Res. 55:102445-102445(2021).
//