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Cellosaurus DHMi004-A (CVCL_B5EP)

[Text version]
Cell line name DHMi004-A
Synonyms HOS_1460
Accession CVCL_B5EP
Resource Identification Initiative To cite this cell line use: DHMi004-A (RRID:CVCL_B5EP)
Comments From: German Heart Center Munich; Munich; Germany.
Population: Caucasian.
Derived from site: In situ; Adipose tissue; UBERON=UBERON_0001013.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 11604; TBX5; Simple; p.Pro85Thr (c.253C>A) (c.920C>A); ClinVar=VCV000626359; Zygosity=Heterozygous; Note=De novo mutation (PubMed=34894535).
Disease Holt-Oram syndrome (NCIt: C125592)
Holt-Oram syndrome (ORDO: Orphanet_392)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D0DX (DHMi004-A-1)CVCL_D0DY (DHMi004-A-2)
Sex of cell Male
Age at sampling 1Y3M
Category Induced pluripotent stem cell
Publications

PubMed=34894535; DOI=10.1016/j.scr.2021.102617
Dressen M., Lahm H., Neb I., Luzius T., Doppler S.A., Schneider S., Dzilic E., Lange R., Krane M.
Establishment of a patient-specific induced pluripotent stem cell line DHMi004-A from a male Holt-Oram syndrome patient with verified TBX5 mutation.
Stem Cell Res. 58:102617-102617(2022)

Cross-references
Cell line databases/resources hPSCreg; DHMi004-A
Biological sample resources BioSamples; SAMEA10332705
Encyclopedic resources Wikidata; Q110432773
Entry history
Entry creation16-Dec-2021
Last entry update05-Oct-2023
Version number5