ID   BGUi011-A
AC   CVCL_A4YK
SY   BGU01iGRIN2D
DR   BioSamples; SAMEA8073002
DR   hPSCreg; BGUi011-A
DR   Wikidata; Q107113458
RX   PubMed=33482465;
CC   From: Ben Gurion University of the Negev; Beer Sheva; Israel.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 4588; GRIN2D; Simple; p.Val667Ile (c.1999G>A); ClinVar=VCV000267211; Zygosity=Heterozygous (PubMed=33482465).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C177545; Developmental and epileptic encephalopathy 46
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y8M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33482465; DOI=10.1016/j.scr.2021.102178;
RA   Rabinski T., Sagiv S.T., Hausman-Kedem M., Fattal-Valevski A.,
RA   Rubinstein M., Avraham K.B., Vatine G.D.;
RT   "Reprogramming of two induced pluripotent stem cell lines from a
RT   heterozygous GRIN2D developmental and epileptic encephalopathy (DEE)
RT   patient (BGUi011-A) and from a healthy family relative (BGUi012-A).";
RL   Stem Cell Res. 51:102178-102178(2021).
//