Cellosaurus cell line CIPi004-A (CVCL

Cross-references
Cell line name	CIPi004-A
Accession	CVCL_E3TM
Resource Identification Initiative	To cite this cell line use: CIPi004-A (RRID:CVCL_E3TM)
Comments	From: Children's Hospital of Capital Institute of Pediatrics; Beijing; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7765; NF1; Simple; c.1527+1G>C; ClinVar=VCV000431589; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38761686).
Disease	Seizure disorder (NCIt: C3020) 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=38761686; DOI=10.1016/j.scr.2024.103444 Fan Wu, Xin-Na Ji, Yan-Yan Gao, Wan-Ting Liu, Yuan-Fang Lu, Ai-Yun Yang, Jian-Hua Wang, Qian Chen, Xue Zhang; Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene. Stem Cell Res. 77:103444-103444(2024)
Cell line databases/resources	hPSCreg; CIPi004-A
Biological sample resources	BioSamples; SAMEA115525688
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1