Cellosaurus cell line UKAi008-C (CVCL

Cellosaurus UKAi008-C (CVCL_A5ND)

Cross-references
Cell line name	UKAi008-C
Synonyms	P15_mut131; Patient 3 KIT D816V 1
Accession	CVCL_A5ND
Resource Identification Initiative	To cite this cell line use: UKAi008-C (RRID:CVCL_A5ND)
Comments	From: Universitatsklinikum Aachen; Aachen; Germany. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:8803; PDGFRA; Simple; p.Ser478Pro (c.1432T>C); ClinVar=VCV000041794; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:25941; TET2; Simple; p.Leu34Phe (c.100C>T); ClinVar=VCV000135308; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:25941; TET2; Simple; p.Val218Met (c.652G>A); ClinVar=VCV000135321; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:25941; TET2; Simple; p.Ile1762Val (c.5284A>G); ClinVar=VCV000135287; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:25941; TET2; Simple; p.His1778Arg (c.5333A>G); ClinVar=VCV000135289; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:11998; TP53; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000012351; Zygosity=Homozygous (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_A5NB ! UKAi008-A CVCL_A5NC ! UKAi008-B
Sex of cell	Male
Age at sampling	61Y
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)
Cell line databases/resources	hPSCreg; UKAi008-C
Biological sample resources	BioSamples; SAMEA8268475
Encyclopedic resources	Wikidata; Q107117234
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5