ID   CUBi002-A
AC   CVCL_XJ86
DR   hPSCreg; CUBi002-A
DR   Wikidata; Q93460512
CC   From: Charite, Universitatsmedizin Berlin; Berlin; Germany.
CC   Sequence variation: Mutation; HGNC; 1348; SAMD9; Simple; p.Ile983Ser (c.2948T>G); Zygosity=Heterozygous (from autologous cell line CUBi002-B).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C147530; MIRAGE syndrome
DI   ORDO; Orphanet_494433; MIRAGE syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_IT60 ! CUBi002-B
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//