Cellosaurus cell line MHHi014-A (CVCL

Cross-references
Cell line name	MHHi014-A
Synonyms	LDSP3C03; LDS-P3 clone 3
Accession	CVCL_YX90
Resource Identification Initiative	To cite this cell line use: MHHi014-A (RRID:CVCL_YX90)
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	Female
Age at sampling	39Y
Category	Induced pluripotent stem cell
Publications	PubMed=32062130; DOI=10.1016/j.scr.2020.101707 Praeploy Pongpamorn, Julia Dahlmann, Alexandra Haase, Carolin Theresa Ebeling, Sylvia Merkert, Gudrun Gohring, Nico Lachmann, Andreas Martens, Axel Haverich, Ulrich Martin, Ruth Olmer; 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; MHHi014-A
Encyclopedic resources	Wikidata; Q95989480
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	7