ID   MHHi012-A
AC   CVCL_YX88
SY   LDSP1C07; LDS-P1 clone 7
DR   hPSCreg; MHHi012-A
DR   Wikidata; Q95989477
RX   PubMed=32062130;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11772; TGFBR1; Simple; p.Met253Ile (c.759G>A); ClinVar=VCV001759703; Zygosity=Heterozygous (PubMed=32062130).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75119; Loeys-Dietz syndrome type 1
DI   ORDO; Orphanet_60030; Loeys-Dietz syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32062130; DOI=10.1016/j.scr.2020.101707;
RA   Pongpamorn P., Dahlmann J., Haase A., Ebeling C.T., Merkert S.,
RA   Gohring G., Lachmann N., Martens A., Haverich A., Martin U.,
RA   Olmer R.;
RT   "Generation of three induced pluripotent stem cell lines (MHHi012-A,
RT   MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying
RT   a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene.";
RL   Stem Cell Res. 43:101707-101707(2020).
//