ID   DHMi004-A-1
AC   CVCL_D0DX
SY   HOS_1460corr 127 Clone 31
DR   BioSamples; SAMEA112137054
DR   hPSCreg; DHMi004-A-1
DR   Wikidata; Q123031160
RX   PubMed=37253295;
CC   From: German Heart Center Munich; Munich; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11604; TBX5; Simple_corrected; p.Pro85Thr (c.253C>A) (c.920C>A); ClinVar=VCV000626359; Zygosity=Heterozygous; Note=De novo mutation. By CRISPR/Cas9 (PubMed=37253295).
CC   Derived from site: In situ; Adipose tissue; UBERON=UBERON_0001013.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C125592; Holt-Oram syndrome
DI   ORDO; Orphanet_392; Holt-Oram syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5EP ! DHMi004-A
SX   Male
AG   1Y3M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37253295; DOI=10.1016/j.scr.2023.103126;
RA   Lahm H., Dzilic E., Neb I., Doppler S.A., Schneider S., Lange R.,
RA   Krane M., Dressen M.;
RT   "Correction of a deleterious TBX5 mutation in an induced pluripotent
RT   stem cell line (DHMi004-A-1) using a completely plasmid-free
RT   CRISPR/Cas 9 approach.";
RL   Stem Cell Res. 70:103126-103126(2023).
//