ID   MHHi001-A-13
AC   CVCL_D6KW
SY   Phx_SRCAP_g3_1200_7; UMGWi003-A-13
DR   BioSamples; SAMEA114222273
DR   hPSCreg; MHHi001-A-13
DR   Wikidata; Q127382827
RX   PubMed=38006676;
CC   From: Department of Functional Genomics - Human Molecular Genetics, University Medicine Greifswald; Greifswald; Germany.
CC   Population: Caucasian.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 16974; SRCAP.
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
DI   NCIt; C175241; Floating-Harbor syndrome
DI   ORDO; Orphanet_2044; Floating-Harbor syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_QX51 ! MHHi001-A
SX   Female
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38006676; DOI=10.1016/j.scr.2023.103249;
RA   Rhode J., Hagenau L., Beimdiek J., Ullmann R., Hossain M.F.,
RA   Tzvetkova A., Jensen L.R., Kuss A.W.;
RT   "Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying
RT   biallelic truncating mutations at the 3'-end of SRCAP using
RT   CRISPR/Cas9.";
RL   Stem Cell Res. 73:103249-103249(2023).
//