Accession SAMC2541525
Accession in Other Database GSA-Human: HRS797725
Sample name S2-22B01277463
Title Peripheral blood cell of S2-22B01277463
Sample type Human sample
Organism Homo sapiens
Description The mother of the proband
Attributes *This sample record contains additional controlled-access information that is avaiable from GSA-Human by requesting study HRA004334 in the GSA-Human system.
Release date 2023-06-16
BioProject Accession PRJCA013814
Submitter Minyue  Dong  (dongmy@zju.edu.cn)
Organization Women's hospital, School of Medicine, Zhejiang University
Submission date 2023-06-18

Sample Data

Resource name Description
GSA-Human (1) -
HRA004334  (Controlled Access) Herein, compound heterozygous mutations of LAMA2: c.1693C>T (maternally inherited) and c.9212-6T>G (paternally inherited) were identified in a Chinese girl diagnosed as LGMD23.
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