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Cellosaurus MMCi001-A (CVCL_YM52)

[Text version]

Cell line name MMCi001-A
Synonyms MMCiPSC-001-A; MMC-iPSC-052B-02
Accession CVCL_YM52
Resource Identification Initiative To cite this cell line use: MMCi001-A (RRID:CVCL_YM52)
Comments From: Mackay Medical College; New Taipei City; Taiwan.
Derived from sampling site: Peripheral blood.
Sequence variations Homozygous for GJB2 p.Val37Ile (c.109G>A) (ClinVar=VCV000017023) (PubMed=31896484).
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 4Y
Category Induced pluripotent stem cell
Publications

PubMed=31896484; DOI=10.1016/j.scr.2019.101692
Lu H.-E., Tsai C.-L., Chiu I.-M., Pan Y.-L., Lin Y.-F., Lin H.-C., Hsu Y.-C.
Generation of induced pluripotent stem cells MMCi001-A from a Taiwanese hearing loss patient carrying GJB2 pV37I mutation.
Stem Cell Res. 42:101692-101692(2020)

Cross-references
Cell line databases/resources hPSCreg; MMCi001-A
Biological sample resources BioSamples; SAMEA6428920
Other Wikidata; Q95990331
Entry history
Entry creation12-Mar-2020
Last entry update02-Jul-2020
Version number2