ID   HAD4
AC   CVCL_C075
SY   HAD 4; HADe004-A; PGD-HAD-4; FD-hESC
DR   BioSamples; SAMEA6613187
DR   hPSCreg; HADe004-A
DR   SKIP; SKIP001856
DR   Wikidata; Q54872333
RX   PubMed=26437462;
CC   From: Hadassah Hebrew University Medical Center; Jerusalem; Israel.
CC   Sequence variation: Mutation; HGNC; 5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=26437462).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C84706; Familial dysautonomia
DI   ORDO; Orphanet_1764; Familial dysautonomia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 13
//
RX   PubMed=26437462; DOI=10.1371/journal.pone.0138807;
RA   Lefler S., Cohen M.A., Kantor G., Cheishvili D., Even A., Birger A.,
RA   Turetsky T.T., Gil Y., Even-Ram S., Aizenman E., Bashir N., Maayan C.,
RA   Razin A., Reubinoff B.E., Weil M.;
RT   "Familial dysautonomia (FD) human embryonic stem cell derived PNS
RT   neurons reveal that synaptic vesicular and neuronal transport genes
RT   are directly or indirectly affected by IKBKAP downregulation.";
RL   PLoS ONE 10:E0138807-E0138807(2015).
//