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Cellosaurus NJUCMi001-A (CVCL_C6RL)

[Text version]
Cell line name NJUCMi001-A
Synonyms LAMA2c.3367delA iPSCs
Accession CVCL_C6RL
Resource Identification Initiative To cite this cell line use: NJUCMi001-A (RRID:CVCL_C6RL)
Comments From: Nanjing University of Chinese Medicine; Nanjing; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6482; LAMA2; Simple; p.Lys1124Asnfs (c.3372delA) (c.3367delA); dbSNP=rs1361925574; Zygosity=Heterozygous (PubMed=36334577).
Disease Merosin-deficient congenital muscular dystrophy type 1A (NCIt: C118783)
Laminin subunit alpha 2-related congenital muscular dystrophy (ORDO: Orphanet_258)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 35Y
Category Induced pluripotent stem cell
Publications

PubMed=36334577; DOI=10.1016/j.scr.2022.102957
Rui Q., Tan J., Jin J., Ye W.-J., Zhou Y.-P., Chen J.-Q.
Establishment of a PBMC-derived induced pluripotent stem cell (NJUCMi001-A) from a patient with LAMA2-related congenital muscular dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2 gene.
Stem Cell Res. 65:102957-102957(2022)

Cross-references
Cell line databases/resources hPSCreg; NJUCMi001-A
Biological sample resources BioSamples; SAMEA111265573
Encyclopedic resources Wikidata; Q117704723
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2