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Cellosaurus HAX1corrected-iPSC#2 (CVCL_A4HN)

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Cell line name HAX1corrected-iPSC#2
Accession CVCL_A4HN
Resource Identification Initiative To cite this cell line use: HAX1corrected-iPSC#2 (RRID:CVCL_A4HN)
Comments From: Department of Pediatric Hematology and Oncology, Hannover Medical School; Hannover; Germany.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:16915; HAX1; Simple_corrected; p.Trp44Ter (c.130_131insA); ClinVar=VCV000004651; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=29296734).
Disease Severe congenital neutropenia type 3, autosomal recessive (NCIt: C166153)
Kostmann syndrome (ORDO: Orphanet_99749)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4HL (HAX1W44X-iPSC)
Category Induced pluripotent stem cell
Publications

PubMed=29296734; DOI=10.1182/bloodadvances.2016003798; PMCID=PMC5737589
Erik Pittermann, Nico Lachmann, Glenn A. MacLean, Stephan Emmrich, Mania Ackermann, Gudrun Gohring, Brigitte Schlegelberger, Karl Welte, Axel Schambach, Dirk Heckl, Stuart Holland Orkin ...Show all 13 authors... , Tobias Cantz, Jan-Henning Klusmann; Show fewer authors
Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells.
Blood Adv. 1:903-914(2017)

Cross-references
Cell line databases/resources SKIP; SKIP003042
Encyclopedic resources Wikidata; Q105507545
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6