Cellosaurus cell line UKAi004-E (CVCL

Cellosaurus UKAi004-E (CVCL_A5IY)

Cross-references
Cell line name	UKAi004-E
Synonyms	P4_mut30; Patient 1 KIT D816V 3
Accession	CVCL_A5IY
Resource Identification Initiative	To cite this cell line use: UKAi004-E (RRID:CVCL_A5IY)
Comments	From: Universitatsklinikum Aachen; Aachen; Germany. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:76; ABL1; Simple; p.Ser972Leu (c.2915C>T); ClinVar=VCV000133443; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:7780; NFE2; Simple; p.Glu261Alafs*3 (c.782_785delAGAG); Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:25941; TET2; Simple; p.Ile1762Val (c.5284A.G); ClinVar=VCV000135287; Zygosity=Homozygous (PubMed=33512435). Mutation; HGNC; 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_A5IX ! UKAi004-D
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)
Cell line databases/resources	hPSCreg; UKAi004-E
Biological sample resources	BioSamples; SAMEA8231216
Encyclopedic resources	Wikidata; Q107117225
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5