ID   BCRTi011-A
AC   CVCL_C7RL
DR   BioSamples; SAMEA112641309
DR   hPSCreg; BCRTi011-A
DR   Wikidata; Q117704213
RX   PubMed=37619442;
CC   From: Berlin-Brandenburg Center for Regenerative Therapies; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7765; NF1; Simple; p.Tyr489Cys (c.466A>G); ClinVar=VCV000000354; Zygosity=Heterozygous (PubMed=37619442).
CC   Sequence variation: Mutation; HGNC; 7765; NF1; Simple; p.Arg652Cys (c.1954C>T); ClinVar=VCV000185762; Zygosity=Heterozygous (PubMed=37619442).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 05-10-23; Version: 3
//
RX   PubMed=37619442; DOI=10.1016/j.scr.2023.103184;
RA   Batool L., Storozhuk O., Raab C., Beez C.M., Selig M., Harder A.,
RA   Kurtz A.;
RT   "Generation of two human induced pluripotent stem cell lines from a
RT   patient with neurofibromatosis type 1 (NF1) and pathogenic NF1 gene
RT   variant c.1466 A>G BCRTi011-A as well as a first-degree healthy
RT   relative (BCRTi010-A).";
RL   Stem Cell Res. 71:103184-103184(2023).
//