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Cellosaurus MHHi012-A (CVCL_YX88)

[Text version]
Cell line name MHHi012-A
Synonyms LDSP1C07; LDS-P1 clone 7
Accession CVCL_YX88
Resource Identification Initiative To cite this cell line use: MHHi012-A (RRID:CVCL_YX88)
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 67Y
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; MHHi012-A
Encyclopedic resources Wikidata; Q95989477
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6