Cellosaurus cell line NJUCMi001-A (CVCL

Cross-references
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; 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 Qiang Rui, Jing Tan, Jing Jin, Wei-Jiao Ye, Ya-Ping Zhou, Jun-Qing Chen; 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)
Cell line databases/resources	hPSCreg; NJUCMi001-A
Biological sample resources	BioSamples; SAMEA111265573
Encyclopedic resources	Wikidata; Q117704723
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3