Cellosaurus cell line BCRTi011-A (CVCL

Cross-references
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; HGNC:7765; NF1; Simple; p.Tyr489Cys (c.466A>G); ClinVar=VCV000000354; Zygosity=Heterozygous (PubMed=37619442). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; BCRTi011-A
Biological sample resources	BioSamples; SAMEA112641309
Encyclopedic resources	Wikidata; Q117704213
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4