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Cellosaurus BCRTi011-A (CVCL_C7RL)

[Text version]
Cell line name BCRTi011-A
Accession CVCL_C7RL
Resource Identification Initiative To cite this cell line use: BCRTi011-A (RRID:CVCL_C7RL)
Comments From: Berlin-Brandenburg Center for Regenerative Therapies; Berlin; Germany.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7765; NF1; Simple; p.Tyr489Cys (c.466A>G); ClinVar=VCV000000354; Zygosity=Heterozygous (PubMed=37619442).
  • Mutation; HGNC; 7765; NF1; Simple; p.Arg652Cys (c.1954C>T); ClinVar=VCV000185762; Zygosity=Heterozygous (PubMed=37619442).
Disease Neurofibromatosis type 1 (NCIt: C3273)
Neurofibromatosis type 1 (ORDO: Orphanet_636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=37619442; DOI=10.1016/j.scr.2023.103184
Batool L., Storozhuk O., Raab C., Beez C.M., Selig M., Harder A., Kurtz A.
Generation of two human induced pluripotent stem cell lines from a patient with neurofibromatosis type 1 (NF1) and pathogenic NF1 gene variant c.1466 A>G BCRTi011-A as well as a first-degree healthy relative (BCRTi010-A).
Stem Cell Res. 71:103184-103184(2023)

Cross-references
Cell line databases/resources hPSCreg; BCRTi011-A
Biological sample resources BioSamples; SAMEA112641309
Encyclopedic resources Wikidata; Q117704213
Entry history
Entry creation21-Mar-2023
Last entry update05-Oct-2023
Version number3