ID   UKAi004-D
AC   CVCL_A5IX
SY   P4_mut28; Patient 1 KIT D816V 2
DR   BioSamples; SAMEA8231215
DR   hPSCreg; UKAi004-D
DR   Wikidata; Q107117224
RX   PubMed=33512435;
CC   From: Universitatsklinikum Aachen; Aachen; Germany.
CC   Sequence variation: Mutation; HGNC; 76; ABL1; Simple; p.Ser972Leu (c.2915C>T); ClinVar=VCV000133443; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 7780; NFE2; Simple; p.Glu261Alafs*3 (c.782_785delAGAG); Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 25941; TET2; Simple; p.Ile1762Val (c.5284A.G); ClinVar=VCV000135287; Zygosity=Homozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000012351; Zygosity=Heterozygous (PubMed=33512435).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C9235; Systemic mastocytosis
DI   ORDO; Orphanet_2467; Systemic mastocytosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A5IU ! UKAi004-A
OI   CVCL_A5IV ! UKAi004-B
OI   CVCL_A5IW ! UKAi004-C
OI   CVCL_A5IY ! UKAi004-E
SX   Male
AG   64Y
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).
//