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Cellosaurus HAD4 (CVCL_C075)

[Text version]

Cell line name HAD4
Synonyms HAD 4; HADe004-A; PGD-HAD-4; FD-hESC
Accession CVCL_C075
Resource Identification Initiative To cite this cell line use: HAD4 (RRID:CVCL_C075)
Comments From: Hadassah Hebrew University Medical Center; Jerusalem; Israel.
Sequence variations 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).
Disease Familial dysautonomia (NCIt: C84706)
Familial dysautonomia (ORDO: Orphanet_1764)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=26437462; DOI=10.1371/journal.pone.0138807
Lefler S., Cohen M.A., Kantor G., Cheishvili D., Even A., Birger A., Turetsky T., Gil Y., Even-Ram S., Aizenman E., Bashir N., Maayan C., Razin A., Reubinoff B.E., Weil M.
Familial dysautonomia (FD) human embryonic stem cell derived PNS neurons reveal that synaptic vesicular and neuronal transport genes are directly or indirectly affected by IKBKAP downregulation.
PLoS ONE 10:E0138807-E0138807(2015)

Cross-references
Cell line databases/resources hPSCreg; HADe004-A
SKIP; SKIP001856
Biological sample resources BioSamples; SAMEA6613187
Encyclopedic resources Wikidata; Q54872333
Entry history
Entry creation06-Jun-2012
Last entry update20-May-2021
Version number11