ID   DHMi004-A
AC   CVCL_B5EP
SY   HOS_1460
DR   BioSamples; SAMEA10332705
DR   hPSCreg; DHMi004-A
DR   Wikidata; Q110432773
RX   PubMed=34894535;
CC   From: German Heart Center Munich; Munich; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11604; TBX5; Simple; p.Pro85Thr (c.253C>A) (c.920C>A); ClinVar=VCV000626359; Zygosity=Heterozygous; Note=De novo mutation (PubMed=34894535).
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)
SX   Male
AG   1Y3M
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 05-10-23; Version: 5
//
RX   PubMed=34894535; DOI=10.1016/j.scr.2021.102617;
RA   Dressen M., Lahm H., Neb I., Luzius T., Doppler S.A., Schneider S.,
RA   Dzilic E., Lange R., Krane M.;
RT   "Establishment of a patient-specific induced pluripotent stem cell
RT   line DHMi004-A from a male Holt-Oram syndrome patient with verified
RT   TBX5 mutation.";
RL   Stem Cell Res. 58:102617-102617(2022).
//