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Cellosaurus SDQLCHi035-A (CVCL_A4XR)

[Text version]

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 sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Heterozygous (PubMed=33517119).
Mutation; HGNC; 4284; GJB2; Simple; p.His100Argfs*14 (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)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi035-A
Encyclopedic resources Wikidata; Q107116889
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2