ID   NJUCMi001-A
AC   CVCL_C6RL
SY   LAMA2c.3367delA iPSCs
DR   BioSamples; SAMEA111265573
DR   hPSCreg; NJUCMi001-A
DR   Wikidata; Q117704723
RX   PubMed=36334577;
CC   From: Nanjing University of Chinese Medicine; Nanjing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Lys1124Asnfs (c.3372delA) (c.3367delA); dbSNP=rs1361925574; Zygosity=Heterozygous (PubMed=36334577).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118783; Merosin-deficient congenital muscular dystrophy type 1A
DI   ORDO; Orphanet_258; Laminin subunit alpha 2-related congenital muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=36334577; DOI=10.1016/j.scr.2022.102957;
RA   Rui, Qiang
RA   Tan, Jing
RA   Jin, Jing
RA   Ye, Wei-Jiao
RA   Zhou, Ya-Ping
RA   Chen, Jun-Qing
RT   "Establishment of a PBMC-derived induced pluripotent stem cell
RT   (NJUCMi001-A) from a patient with LAMA2-related congenital muscular
RT   dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2
RT   gene.";
RL   Stem Cell Res. 65:102957-102957(2022).
//