ID   UKAi007-A
AC   CVCL_A5MZ
SY   P13_wt5; Patient 2 control 1
DR   BioSamples; SAMEA8268471
DR   hPSCreg; UKAi007-A
DR   Wikidata; Q107117229
RX   PubMed=33512435;
CC   From: Universitatsklinikum Aachen; Aachen; Germany.
CC   Characteristics: Established from a patient that has a KIT p.Asp816Val mutation, but this cell line does not contain this mutation.
CC   Sequence variation: Mutation; HGNC; 76; ABL1; Simple; p.Gly725Ser (c.2173G>A) (p.Gly706Ser, c.2116G>A); ClinVar=VCV000133445; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 5382; IDH1; Simple; p.Val178Ile (c.532G>A); ClinVar=VCV000134520; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 8803; PDGFRA; Simple; p.Ser478Pro (c.1432T>C); ClinVar=VCV000041794; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 10471; RUNX1; Simple; p.Val101Alafs*31 (c.302_318del); Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 10783; SRSF2; Simple; p.Pro95_Arg102del (c.284_307del); dbSNP=rs766200080; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 25941; TET2; Simple; p.Ser1292Arg (c.3876C>G); Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 25941; TET2; Simple; p.Arg1465Ter (c.4393C>T); ClinVar=VCV001899776; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000012351; Zygosity=Homozygous (PubMed=33512435).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
DI   NCIt; C9235; Systemic mastocytosis
DI   ORDO; Orphanet_2467; Systemic mastocytosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A5NA ! UKAi007-B
SX   Male
AG   90Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33512435; DOI=10.1182/blood.2019004509;
RA   Szymanski de Toledo M.A., Gatz M., Sontag S., Gleixner K.V.,
RA   Eisenwort G., Feldberg K., Hamouda A.E.I., Kluge F., Guareschi R.,
RA   Rossetti G., Sechi A.S., Dufva O.M.J., Mustjoki S.M., Maurer A.,
RA   Schuler H.M., Goetzke R., Braunschweig T., Kaiser A., Panse J.,
RA   Jawhar M., Reiter A., Hilberg F., Ettmayer P., Wagner W., Koschmieder S.,
RA   Brummendorf T.H., Valent P., Chatain N., Zenke M.;
RT   "Nintedanib targets KIT D816V neoplastic cells derived from induced
RT   pluripotent stem cells of systemic mastocytosis.";
RL   Blood 137:2070-2084(2021).
//