Cellosaurus cell line SDQLCHi035-A (CVCL

Cross-references
Cell line name	SDQLCHi035-A
Accession	CVCL_A4XR
Resource Identification Initiative	To cite this cell line use: SDQLCHi035-A (RRID:CVCL_A4XR)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Leu79Cysfs3 (c.235delC); ClinVar=VCV000017014; Zygosity=Heterozygous (PubMed=33517119). Mutation; HGNC; HGNC:4284; GJB2; Simple; p.His100Argfs14 (c.299_300delAT); ClinVar=VCV000044736; Zygosity=Heterozygous (PubMed=33517119).
Disease	Deafness, autosomal recessive 1A (NCIt: C129022) Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=33517119; DOI=10.1016/j.scr.2021.102188 Yang X.-M., Liu N., Mu H., Lv Y.-Q., Zhang H.-Y., Li Y., Guan J.-Y., Gai Z.-T., Liu Y. Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene. Stem Cell Res. 51:102188-102188(2021)
Cell line databases/resources	hPSCreg; SDQLCHi035-A
Encyclopedic resources	Wikidata; Q107116889
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5