ID   CIPi004-A
AC   CVCL_E3TM
DR   BioSamples; SAMEA115525688
DR   hPSCreg; CIPi004-A
RX   PubMed=38761686;
CC   From: Children's Hospital of Capital Institute of Pediatrics; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; c.1527+1G>C; ClinVar=VCV000431589; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38761686).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3020; Seizure disorder
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: 19-12-24; Last updated: 19-12-24; Version: 1
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RX   PubMed=38761686; DOI=10.1016/j.scr.2024.103444;
RA   Wu F., Ji X.-N., Gao Y.-Y., Liu W.-T., Lu Y.-F., Yang A.-Y.,
RA   Wang J.-H., Chen Q., Zhang X.;
RT   "Generation of a human iPSC line CIPi004-A from a patient with
RT   neurofibromatosis type 1 and epilepsy harboring a heterozygous
RT   mutation in NF1 gene.";
RL   Stem Cell Res. 77:103444-103444(2024).
//