ID   DHMi005-A-6
AC   CVCL_D0E1
SY   L_mut_FLAG Clone 14
DR   BioSamples; SAMEA111493346
DR   hPSCreg; DHMi005-A-6
DR   Wikidata; Q123031167
RX   PubMed=37210946;
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 the mutated allele of TBX5 (PubMed=37210946).
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 (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_B5SK ! DHMi005-A-1
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37210946; DOI=10.1016/j.scr.2023.103123;
RA   Lahm H., Stieglbauer S., Neb I., Doppler S.A., Schneider S., Dzilic E.,
RA   Lange R., Krane M., Dressen M.;
RT   "Generation of three CRISPR/Cas9 edited human induced pluripotent stem
RT   cell lines (DHMi005-A-5, DHMi005-A-6 and DHMi005-A-7) carrying a
RT   Holt-Oram Syndrome patient-specific TBX5 mutation with known cardiac
RT   phenotype and a FLAG-tag after exon 9 of the TBX5 gene.";
RL   Stem Cell Res. 69:103123-103123(2023).
//