ID   DHMi004-A-5
AC   CVCL_D0E4
SY   1460corr_IDT Cl.127_FlagT Clone 25
DR   BioSamples; SAMEA114295305
DR   hPSCreg; DHMi004-A-5
DR   Wikidata; Q123031164
RX   PubMed=38100916;
CC   From: German Heart Center Munich; Munich; Germany.
CC   Population: Caucasian.
CC   Characteristics: Using CRISPR/Cas9 a FLAG tag was introduced at the C-terminus of one allele of TBX5 (PubMed=38100916).
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 (from parent cell line).
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_D0DX ! DHMi004-A-1
SX   Male
AG   1Y3M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38100916; DOI=10.1016/j.scr.2023.103261;
RA   Lahm H., Singh N.K., Gottmann I., Doppler S.A., Dzilic E.,
RA   Preisler H., Schneider S., Lange R., Krane M., Dressen M.;
RT   "Insertion of a FLAG-tag sequence at the end of exon 9 of the TBX5
RT   gene in three induced pluripotent stem cell lines (DHMi004-A-4,
RT   DHMi004-A-5, DHMi004-A-6) by CRISPR/Cas9 technology.";
RL   Stem Cell Res. 74:103261-103261(2024).
//