| Cell line name |
UKAi007-A |
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| Synonyms |
P13_wt5; Patient 2 control 1 |
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| Accession |
CVCL_A5MZ |
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| Resource Identification Initiative |
To cite this cell line use: UKAi007-A (RRID:CVCL_A5MZ) |
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| 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. |
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| Sequence variations |
- Mutation; HGNC; 76; ABL1; Simple; p.Gly725Ser (c.2173G>A) (p.Gly706Ser, c.2116G>A); ClinVar=VCV000133445; Zygosity=Heterozygous (PubMed=33512435).
- Mutation; HGNC; 5382; IDH1; Simple; p.Val178Ile (c.532G>A); ClinVar=VCV000134520; Zygosity=Heterozygous (PubMed=33512435).
- Mutation; HGNC; 8803; PDGFRA; Simple; p.Ser478Pro (c.1432T>C); ClinVar=VCV000041794; Zygosity=Heterozygous (PubMed=33512435).
- Mutation; HGNC; 10471; RUNX1; Simple; p.Val101Alafs*31 (c.302_318del); Zygosity=Heterozygous (PubMed=33512435).
- Mutation; HGNC; 10783; SRSF2; Simple; p.Pro95_Arg102del (c.284_307del); dbSNP=rs766200080; Zygosity=Heterozygous (PubMed=33512435).
- Mutation; HGNC; 25941; TET2; Simple; p.Ser1292Arg (c.3876C>G); Zygosity=Heterozygous (PubMed=33512435).
- Mutation; HGNC; 25941; TET2; Simple; p.Arg1465Ter (c.4393C>T); ClinVar=VCV001899776; Zygosity=Heterozygous (PubMed=33512435).
- Mutation; HGNC; 11998; TP53; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000012351; Zygosity=Homozygous (PubMed=33512435).
|
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| Disease |
Systemic mastocytosis (NCIt: C9235)
Systemic mastocytosis (ORDO: Orphanet_2467) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Originate from same individual |
CVCL_A5NA ! UKAi007-B |
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| Sex of cell |
Male |
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| Age at sampling |
90Y |
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| Category |
Induced pluripotent stem cell |
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| 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) |
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| Cross-references |
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| Cell line databases/resources |
hPSCreg; UKAi007-A
|
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| Biological sample resources |
BioSamples; SAMEA8268471
|
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| Encyclopedic resources |
Wikidata; Q107117229
|
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| Entry history |
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| Entry creation | 20-May-2021 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 4 |
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