ID   DHMi005-A-5
AC   CVCL_D0E0
SY   L_mut_FLAG Clone 4
DR   BioSamples; SAMEA111493297
DR   hPSCreg; DHMi005-A-5
DR   Wikidata; Q123031166
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; 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: 19-12-24; Version: 3
//
RX   PubMed=37210946; DOI=10.1016/j.scr.2023.103123;
RA   Lahm, Harald
RA   Stieglbauer, Steffi
RA   Neb, Irina
RA   Doppler, Stefanie A.
RA   Schneider, Stephanie
RA   Dzilic, Elda
RA   Lange, Rudiger
RA   Krane, Markus
RA   Dressen, Martina
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).
//