ID   MRIi018-A
AC   CVCL_A8MP
SY   HLHS_375
DR   BioSamples; SAMEA8944460
DR   hPSCreg; MRIi018-A
DR   Wikidata; Q108820967
CC   From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 944; ADGRB2; Simple; p.Gly267Asp (c.800G>A); Zygosity=Unspecified; Note=De novo mutation (hPSCreg=MRIi018-A).
CC   Sequence variation: Mutation; HGNC; 28338; DENND5B; Simple; p.Lys799Arg (c.2396A>G); Zygosity=Unspecified; Note=De novo mutation (hPSCreg=MRIi018-A).
CC   Sequence variation: Mutation; HGNC; 26011; SYBU; Simple; p.Pro93Leu (c.278C>A); Zygosity=Unspecified; Note=De novo mutation (hPSCreg=MRIi018-A).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98894; Hypoplastic left heart syndrome
DI   ORDO; Orphanet_2248; Hypoplastic left heart syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//