ID   MHHi001-A-12
AC   CVCL_D6KV
SY   Phx_SRCAP_g3_1200_4; UMGWi003-A-12
DR   BioSamples; SAMEA114222272
DR   hPSCreg; MHHi001-A-12
DR   Wikidata; Q127382826
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; 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: 19-12-24; Version: 3
//
RX   PubMed=38006676; DOI=10.1016/j.scr.2023.103249;
RA   Rhode, Johannes
RA   Hagenau, Lisa
RA   Beimdiek, Julia
RA   Ullmann, Reinhard
RA   Hossain, Mohammed Faruq
RA   Tzvetkova, Ana
RA   Jensen, Lars Riff
RA   Kuss, Andreas 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).
//