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Cellosaurus HAD4 (CVCL_C075)

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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.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; 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; PMCID=PMC4593545
Sharon Lefler, Malkiel A. Cohen, Gal Kantor, David Cheishvili, Aviel Even, Anastasya Birger, Tikva Tako Turetsky, Yaniv Gil, Sharona Even-Ram, Einat Aizenman, Nibal Bashir ...Show all 15 authors... , Channa Maayan, Aharon Razin, Benjamin E. Reubinoff, Miguel Weil; Show fewer authors
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:e0138807.1-e0138807.28(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 update19-Dec-2024
Version number14