Cellosaurus cell line SAHGMUi001-A (CVCL

Cross-references
Cell line name	SAHGMUi001-A
Synonyms	NS-iPSC
Accession	CVCL_A1WU
Resource Identification Initiative	To cite this cell line use: SAHGMUi001-A (RRID:CVCL_A1WU)
Comments	From: The Second Affiliated Hospital of Guangzhou Medical University; Guangzhou; China. Population: Chinese; Han. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:15464; SPINK5; Simple; p.Lys754Ter (c.2260A>T); ClinVar=VCV001379542; Zygosity=Heterozygous (PubMed=33556917). Mutation; HGNC; HGNC:15464; SPINK5; Simple; p.Thr808Ile (c.2423C>T); ClinVar=VCV000848986; Zygosity=Heterozygous (PubMed=33556917).
Disease	Netherton syndrome (NCIt: C84922) Netherton syndrome (ORDO: Orphanet_634)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	43Y
Category	Induced pluripotent stem cell
Publications	PubMed=33556917; DOI=10.1016/j.scr.2021.102213 Xu M., Wang L., Yin J.-W., Xiong J.-L., Guo Q., Yang W.-L. Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation. Stem Cell Res. 51:102213-102213(2021)
Cell line databases/resources	hPSCreg; SAHGMUi001-A
Biological sample resources	BioSamples; SAMEA7718792
Encyclopedic resources	Wikidata; Q105510956
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6