Cellosaurus cell line MMCi001-A (CVCL

Cross-references
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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Val37Ile (c.109G>A); ClinVar=VCV000017023; Zygosity=Homozygous (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 Huai-En Lu, Chia-Ling Tsai, Ing-Ming Chiu, Yu-Ling Pan, Yi-Feng Lin, Hung-Ching Lin, Yu-Chao Hsu; 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)
Cell line databases/resources	hPSCreg; MMCi001-A SKIP; SKIP005600
Biological sample resources	BioSamples; SAMEA6428920
Encyclopedic resources	Wikidata; Q95990331
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	7