Cellosaurus cell line UKAi004-A (CVCL

Cellosaurus UKAi004-A (CVCL_A5IU)

Cross-references
Cell line name	UKAi004-A
Synonyms	P4_wt4; Patient 1 control 1
Accession	CVCL_A5IU
Resource Identification Initiative	To cite this cell line use: UKAi004-A (RRID:CVCL_A5IU)
Comments	From: Universitatsklinikum Aachen; Aachen; Germany. Characteristics: Established from a patient that has a KIT p.Asp816Val mutation, but this cell line does not contain this mutation. 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:7780; NFE2; Simple; p.Glu261Alafs3 (c.782_785delAGAG); Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:7989; NRAS; Simple; p.Gly12Asp (c.35G>A); ClinVar=VCV000039648; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:25941; TET2; Simple; p.Cys973Alafs34 (c.2917delT); 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_A5IV ! UKAi004-B CVCL_A5IW ! UKAi004-C CVCL_A5IX ! UKAi004-D 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)
Cell line databases/resources	hPSCreg; UKAi004-A
Biological sample resources	BioSamples; SAMEA8172007
Encyclopedic resources	Wikidata; Q107117221
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5