ID   DHMi005-A-1
AC   CVCL_B5SK
SY   L_mut
DR   BioSamples; SAMEA11744856
DR   hPSCreg; DHMi005-A-1
DR   Wikidata; Q111733156
RX   PubMed=35121196;
CC   From: German Heart Center Munich; Munich; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11604; TBX5; Simple_edited; p.Pro85Thr (c.253C>A) (c.920C>A); ClinVar=VCV000626359; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35121196).
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_B5EQ ! DHMi005-A
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 05-10-23; Version: 5
//
RX   PubMed=35121196; DOI=10.1016/j.scr.2022.102691;
RA   Lahm H., Heinrich P., Zierler E., Dzilic E., Neb I., Luzius T.,
RA   Doppler S.A., Schneider S., Lange R., Krane M., Dressen M.;
RT   "Generation of a CRISPR/Cas edited human induced pluripotent stem cell
RT   line DHMi005-A-1 carrying a patient-specific disease-causing point
RT   mutation in the TBX5 gene.";
RL   Stem Cell Res. 60:102691-102691(2022).
//