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; 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: 19-12-24; Version: 6
CH   CVCL_D0E0 ! DHMi005-A-5
CH   CVCL_D0E1 ! DHMi005-A-6
CH   CVCL_D0E2 ! DHMi005-A-7
//
RX   PubMed=35121196; DOI=10.1016/j.scr.2022.102691;
RA   Lahm, Harald
RA   Heinrich, Paul
RA   Zierler, Elisabeth
RA   Dzilic, Elda
RA   Neb, Irina
RA   Luzius, Tatjana
RA   Doppler, Stefanie A.
RA   Schneider, Stephanie
RA   Lange, Rudiger
RA   Krane, Markus
RA   Dressen, Martina
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).
//