Cellosaurus cell line MHHi012-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; MHHi012-A
Encyclopedic resources	Wikidata; Q95989477
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	7