ID   DHMi004-A-3
AC   CVCL_D0DZ
SY   HOS_1460corr 127 Clone 31_FLAG Clone 18
DR   BioSamples; SAMEA112152875
DR   hPSCreg; DHMi004-A-3
DR   Wikidata; Q123031162
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 one allele of TBX5 (hPSCreg=DHMi004-A-3).
CC   Sequence variation: Mutation; HGNC; 11604; TBX5; Simple_corrected; p.Pro85Thr (c.253C>A) (c.920C>A); ClinVar=VCV000626359; Zygosity=Heterozygous; Note=De novo mutation. 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_D0DX ! DHMi004-A-1
SX   Male
AG   1Y3M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
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