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Cellosaurus UKAi004-D (CVCL_A5IX)

[Text version]
Cell line name UKAi004-D
Synonyms P4_mut28; Patient 1 KIT D816V 2
Accession CVCL_A5IX
Resource Identification Initiative To cite this cell line use: UKAi004-D (RRID:CVCL_A5IX)
Comments From: Universitatsklinikum Aachen; Aachen; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 76; ABL1; Simple; p.Ser972Leu (c.2915C>T); ClinVar=VCV000133443; Zygosity=Heterozygous (PubMed=33512435).
  • Mutation; HGNC; 6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=33512435).
  • Mutation; HGNC; 7780; NFE2; Simple; p.Glu261Alafs*3 (c.782_785delAGAG); Zygosity=Heterozygous (PubMed=33512435).
  • Mutation; HGNC; 25941; TET2; Simple; p.Ile1762Val (c.5284A.G); ClinVar=VCV000135287; Zygosity=Homozygous (PubMed=33512435).
  • Mutation; HGNC; 11998; TP53; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000012351; Zygosity=Heterozygous (PubMed=33512435).
Disease Systemic mastocytosis (NCIt: C9235)
Systemic mastocytosis (ORDO: Orphanet_2467)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A5IU ! UKAi004-A
CVCL_A5IV ! UKAi004-B
CVCL_A5IW ! UKAi004-C
CVCL_A5IY ! UKAi004-E
Sex of cell Male
Age at sampling 64Y
Category Induced pluripotent stem cell
Publications

PubMed=33512435; DOI=10.1182/blood.2019004509
Szymanski de Toledo M.A., Gatz M., Sontag S., Gleixner K.V., Eisenwort G., Feldberg K., Hamouda A.E.I., Kluge F., Guareschi R., Rossetti G., Sechi A.S., Dufva O.M.J., Mustjoki S.M., Maurer A., Schuler H.M., Goetzke R., Braunschweig T., Kaiser A., Panse J., Jawhar M., Reiter A., Hilberg F., Ettmayer P., Wagner W., Koschmieder S., Brummendorf T.H., Valent P., Chatain N., Zenke M.
Nintedanib targets KIT D816V neoplastic cells derived from induced pluripotent stem cells of systemic mastocytosis.
Blood 137:2070-2084(2021)

Cross-references
Cell line databases/resources hPSCreg; UKAi004-D
Biological sample resources BioSamples; SAMEA8231215
Encyclopedic resources Wikidata; Q107117224
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4