Cellosaurus cell line UKAi007-A (CVCL

Cellosaurus UKAi007-A (CVCL_A5MZ)

Cross-references
Cell line name	UKAi007-A
Synonyms	P13_wt5; Patient 2 control 1
Accession	CVCL_A5MZ
Resource Identification Initiative	To cite this cell line use: UKAi007-A (RRID:CVCL_A5MZ)
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; Bone marrow; UBERON=UBERON_0002371.
Sequence variations	Mutation; HGNC; HGNC:76; ABL1; Simple; p.Gly725Ser (c.2173G>A) (p.Gly706Ser, c.2116G>A); ClinVar=VCV000133445; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:5382; IDH1; Simple; p.Val178Ile (c.532G>A); ClinVar=VCV000134520; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:8803; PDGFRA; Simple; p.Ser478Pro (c.1432T>C); ClinVar=VCV000041794; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:10471; RUNX1; Simple; p.Val101Alafs*31 (c.302_318del); Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:10783; SRSF2; Simple; p.Pro95_Arg102del (c.284_307del); dbSNP=rs766200080; Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:25941; TET2; Simple; p.Ser1292Arg (c.3876C>G); Zygosity=Heterozygous (PubMed=33512435). Mutation; HGNC; HGNC:25941; TET2; Simple; p.Arg1465Ter (c.4393C>T); ClinVar=VCV001899776; 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_A5NA ! UKAi007-B
Sex of cell	Male
Age at sampling	90Y
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; UKAi007-A
Biological sample resources	BioSamples; SAMEA8268471
Encyclopedic resources	Wikidata; Q107117229
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5