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Cellosaurus MHHi013-A (CVCL_YX89)

[Text version]
Cell line name MHHi013-A
Synonyms LDSP2C16; LDS-P2 clone 16
Accession CVCL_YX89
Resource Identification Initiative To cite this cell line use: MHHi013-A (RRID:CVCL_YX89)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11772; TGFBR1; Simple; p.Met253Ile (c.759G>A); ClinVar=VCV001759703; Zygosity=Heterozygous (PubMed=32062130).
Disease Loeys-Dietz syndrome type 1 (NCIt: C75119)
Loeys-Dietz syndrome (ORDO: Orphanet_60030)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=32062130; DOI=10.1016/j.scr.2020.101707
Pongpamorn P., Dahlmann J., Haase A., Ebeling C.T., Merkert S., Gohring G., Lachmann N., Martens A., Haverich A., Martin U., Olmer R.
Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene.
Stem Cell Res. 43:101707-101707(2020)

Cross-references
Cell line databases/resources hPSCreg; MHHi013-A
Encyclopedic resources Wikidata; Q95989478
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6